- Laboratories
- Centrum Menselijke Erfelijkheid - KUL
Centrum Menselijke Erfelijkheid - KUL
Name of the laboratory: |
Centrum Menselijke Erfelijkheid - KUL
|
Abbreviation: |
KUL
|
Institute name: |
University Hospitals Leuven-Gasthuisberg
|
Abbreviation institute: |
KUL
|
RIZIV number: |
82499092-996
|
Address: |
Herestraat, 49 bus 606 |
Telephone: | |
Fax: | |
E-mail: |
cme@uzleuven.be
|
URL: | |
EQA: |
2021
DNA Sequencing – NGS (vGermline)
EMQN
2016
DNA Sequencing – NGS (vGermline)
EMQN
2018
DNA Sequencing – NGS (vGermline)
EMQN
2019
DNA Sequencing – NGS (vGermline)
EMQN
2022
DNA Sequencing – NGS (vGermline)
EMQN
2015
DNA Sequencing - Sanger
EMQN
2016
DNA Sequencing - Sanger
EMQN
2017
DNA Sequencing - Sanger
EMQN
2018
DNA Sequencing - Sanger
EMQN
2019
DNA Sequencing - Sanger
EMQN
2022
DNA Sequencing - Sanger
EMQN
2022
NIPT for common aneuploidies
GenQA (Genomics Quality Assessment)
|
Created: |
09 May 2018 - 08:28
|
Changed: |
01 Mar 2023 - 14:41
|
- Agammaglobulinemia
- Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics
- Alpha-1-antitrypsin deficiency (2 hot sopt mutations / p.Glu366Lys; p.Glu288Val )
- Alzheimer Disease, late onset (AD2) / ApoE2, E3, and E4 isoforms
- Alzheimer disease (3 genes)
- Amyloidosis (full sanger screening of the 4 exons for TTR)
- Amyotrophic lateral sclerosis (GGGGCC repeat expansion in the C9ORF72 gene)
- Amyotrophic lateral sclerosis (gene panel)
- Angelman / Prader Willi Syndrome
- Ataxia (gene panel)
- Autoimmune disease, multisystem, infantile-onset (ADMIO) / Hyper-IgE recurrent infection syndrome
- Autoimmune lymphoproliferative syndrome
- Autoimmune lymphoproliferative syndrome type 1A
- Autoimmune lymphoproliferative syndrome, type V
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
- Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c)
- BAP1 Syndrome
- Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene)
- Beckwith-Wiedemann syndrome
- Birt-Hogg-Dubé syndrome
- Bloom syndrome
- Breast and Ovarian Cancer, HBOC, Familial (gene panel)
- CANVAS disease - repeat in RFC1 gene
- Candidiasis, familial 7 / Immunodeficiency 31A (AD) / Immunodefyciency 31B (AR)
- Cardiopathies, hereditary (gene panel)
- Charcot-Marie-Tooth (other than type 1A) (gene panel, IPN panel)
- Charcot-Marie-Tooth type 1A (CMT1A) / Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
- Child Interstitial Lung Disease (child - gene panel)
- Chronic granulomatous disease, X-linked
- Coeliac disease (HLA-DQ2, HLA-DQ8) - Pharmacogenetics
- Colorectal cancer / Polyposis (gene panel)
- Combined immunodeficiency (severe), X-linked
- Congenital disorder of glycosylation (3 genes)
- Congenital disorders of glycosylation (79 genes)
- Congenital hemangioma (2 genes)
- Constitutional Mismatch Repair Deficiency Syndrome (4 genes)
- Constitutional Mismatch Repair Deficiency Syndrome + Bloom syndrome (5 genes)
- Cowden disease (3 genes)
- Craniosynostosis (gene panel)
- Cystic Fibrosis / Congenital absence of the vas deferens / related disorders (50 hot spot mutations)
- Cystic Fibrosis / related disorder
- DICER1 Syndrome
- Developmental disorders: intellectual disability and multiple congenital anomalies (gene panel)
- Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3)
- Dyskeratosis Congenita (gene panel)
- Dystonia (gene panel)
- Emberger syndrome / Immunodeficiency 21
- Endometrial cancer (gene panel)
- Epidermal nevus syndrome (gene panel)
- Epidermolysis bullosa (gene panel)
- Episodic ataxia 2
- FMR1-premutation instability
- Facioscapulohumeral muscular dystrophy 1A (D4Z4 repeat)
- Familial hemiplegic Migraine (gene panel)
- Fragile X syndrome/POF/FXTAS - CGG repeat expansion
- Friedreich ataxia - GAA repeat expansion
- Frontotemporal lobar degeneration/ Amyotrophy Lateral Sclerosis (gene panel)
- Gastric Cancer (10 genes)
- Genetic disorders of Calcium and Phosphate metabolism (gene panel)
- Gilbert syndrome / Irinotecan sensitivity (homozygous A(TA)7TAA allele)
- Gorlin syndrome (PTCH1; SUFU genes)
- Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)
- Hemophilia A
- Hemophilia B
- Hereditary Spastic Paraplegia (94 genes)
- Hirschsprung disease
- Huntington disease - CAG repeat expansion
- Hypercholesterolemia, Familial (4 genes)
- Hypermethylation promoter MLH1 and p.V600 of BRAF1
- Hyperparathyroidism (gene panel)
- Hypocalciuric Hypercalcemia, Neonatal Severe Hyperparathyroidism, Hypocalcemia
- Ichthyosis (gene panel)
- Immune deficiency with hyperIgM, type 3
- Immune deficiency, X-linked, with hyperIgM
- Immunodeficiency - Activated PI3K-delta syndrome
- Immunodeficiency 30 / Susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
- Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome
- Kennedy disease (Spinal and bulbar muscular atrophy, SBMA) - CAG repeat expansion
- Keratinopathic ichthyosis (epidermolytic ichtyosis, superficial epidermolytic ichthyosis, congenital reticular ichthyosiform erythroderma) (3 genes)
- Kidney cancer (Renal cell carcinoma and transitional cell carcinoma (TCC) renal pelvis) (gene panel)
- Kidney cancer (renal cell carcinoma) (gene panel)
- Li-Fraumeni syndrome
- Lymphoproliferative syndrome, X-linked (SH2D1A gene) / Duncan's disease
- Lymphoproliferative syndrome, X-linked (XIAP gene)
- Malignant Mesothelioma (BAP1; CDKN2A genes)
- Mc Cune Albright
- Medulloblastoma (gene panel)
- Melanoma / Familial Atypical Multiple Mole Melanoma Syndrome (gene panel)
- Meningioma (gene panel)
- Metastatic Breast or Pancreatic Cancer
- Microsatellite instability analysis
- Multiple endocrine neoplasia type 1 and 4 (MEN1; CDKN1B genes)
- Multiple endocrine neoplasia type 2A and 2B / Familial medullary thyroid carcinoma
- Narcolepsy (HLA-DQB1*0602 Genotyping) - Pharmacogenetics
- Nephropathies, hereditary (gene panel)
- Neuroendocrine tumor (NET) (gene panel)
- Neurofibromatosis type 1 / Legius syndrome (2 genes)
- Neuromuscular disorders (232 genes (= myopathy, metabolic myopathy, ion channel muscle diseases, muscular dystrophy, myotonic dystrophy, rhabdomyolysis, myasthenia)
- Nijmegen Breakage Syndrome
- Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes
- Noonan syndrome (Screening PTPN11)
- Oculopharyngeal Muscular Dystrophy - GCN repeats expansion
- Osteogenesis Imperfecta (gene panel)
- Overgrowth & vascular anomalies / CLOVES syndrome
- Overgrowth & vascular anomalies / Proteus syndrome (c.49G>A (p.Glu17Lys) mutation)
- Pancreatic cancer (gene panel)
- Paraganglioma-pheochromocytoma (gene panel)
- Parkinson (gene panel)
- Polyarteritis nodosa, childhood-onset / Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
- Primary Arterial Hypertension (gene panel)
- Primary Ciliary Dyskinesia (50 genes)
- Primary immune deficiencies (gene panel)
- Prostate Cancer (3 genes)
- Pulmonary Fibrosis (gene panel) + rs35705950 of MUC5B gene
- RASopathy (gene panel)
- Rare non-epithelial ovarian neoplasms (2 genes)
- Renal cysts and diabetes syndrome
- Retinoblastoma
- Rett syndrome / MECP2 Duplication Syndrome
- Rhabdoid Tumor Predisposition Syndrome (SMARCA4; SMARCB1 genes)
- Rhabdomyosarcoma
- Schwannoma Predisposition Syndrome (gene panel)
- Skeletal Dysplasia (gene panel)
- Somatic analysis of the BRCA genes (2 genes)
- Spastic paraplegia-4
- Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
- Spinocerebellar ataxia (types 1, 2, 3, 6, 7) - CAG repeat expansion
- Steinert myotonic dystrophy - CTG repeat expansion
- Stickler syndrome (gene panel)
- Swachman-Bodian-Diamond syndrome
- Telangiectasia,hereditary hemorrhagic of Rendu Osler and Weber (gene panel)
- Thiopurine S-Methyltransferase deficiency - TPMT genotyping of 3 polymorphisms - Pharmacogenetics
- Torsion dystonia 1 (DYT1) (hot spot mutation - c.907_909delGAG)
- Trombosis - Hemostasis (gene panel)
- Uniparental Disomy (UDP7; UDP11; UDP14; UDP20)
- Von Hippel Lindau
- WAGR Syndrome
- WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome
- Wilms tumor (DICER1; WT1 genes)
- Wiskott-Aldrich syndrome
- X-chromosome inactivation
- X-linked agammaglobulinemia
- Zygosity (medical)
- Alzheimer disease (NON RARE IN EUROPE)
- ALG1-CDG
- ALG11-CDG
- ALG12-CDG
- ALG13-CDG
- ALG2-CDG
- ALG3-CDG
- ALG6-CDG
- ALG8-CDG
- ALG9-CDG
- APC-related attenuated familial adenomatous polyposis
- ATTRV122I amyloidosis
- ATTRV30M amyloidosis
- Abacavir toxicity
- Acquired idiopathic sideroblastic anemia
- Acral peeling skin syndrome
- Acral self-healing collodion baby
- Acrodermatitis continua of Hallopeau
- Acrodermatitis enteropathica
- Activated PI3K-delta syndrome
- Acute myeloid leukaemia with myelodysplasia-related features
- Acute myeloid leukemia with t(8;21)(q22;q22) translocation
- Acute neonatal citrullinemia type I
- Adult-onset citrullinemia type I
- Aggressive systemic mastocytosis
- Alpha delta granule deficiency
- Alpha-1-antitrypsin deficiency
- Amish infantile epilepsy syndrome
- Amyotrophic lateral sclerosis
- Andersen-Tawil syndrome
- Angelman syndrome due to imprinting defect in 15q11-q13
- Angelman syndrome due to maternal 15q11q13 deletion
- Angelman syndrome due to paternal uniparental disomy of chromosome 15
- Annular epidermolytic ichthyosis
- Aplasia cutis congenita
- Arthrogryposis-renal dysfunction-cholestasis syndrome
- Atrial septal defect, ostium secundum type
- Atrial standstill
- Attenuated Chédiak-Higashi syndrome
- Atypical hemolytic uremic syndrome with complement gene abnormality
- Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
- Autism spectrum disorder-epilepsy-arthrogryposis syndrome
- Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
- Autoimmune interstitial lung disease-arthritis syndrome
- Autoimmune lymphoproliferative syndrome
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
- Autoimmune polyendocrinopathy type 1
- Autosomal agammaglobulinemia
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
- Autosomal dominant Charcot-Marie-Tooth disease type 2DD
- Autosomal dominant Charcot-Marie-Tooth disease type 2E
- Autosomal dominant Charcot-Marie-Tooth disease type 2F
- Autosomal dominant Charcot-Marie-Tooth disease type 2I
- Autosomal dominant Charcot-Marie-Tooth disease type 2J
- Autosomal dominant Charcot-Marie-Tooth disease type 2K
- Autosomal dominant Charcot-Marie-Tooth disease type 2M
- Autosomal dominant Charcot-Marie-Tooth disease type 2N
- Autosomal dominant Charcot-Marie-Tooth disease type 2O
- Autosomal dominant Charcot-Marie-Tooth disease type 2V
- Autosomal dominant Charcot-Marie-Tooth disease type 2W
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y
- Autosomal dominant dopa-responsive dystonia
- Autosomal dominant epidermolytic ichthyosis
- Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
- Autosomal dominant generalized dystrophic epidermolysis bullosa
- Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
- Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- Autosomal dominant hyper-IgE syndrome
- Autosomal dominant hypocalcemia
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
- Autosomal dominant macrothrombocytopenia
- Autosomal dominant palmoplantar keratoderma and congenital alopecia
- Autosomal dominant progressive external ophthalmoplegia
- Autosomal dominant severe congenital neutropenia
- Autosomal dominant slowed nerve conduction velocity
- Autosomal dominant spastic paraplegia type 17
- Autosomal dominant spastic paraplegia type 3
- Autosomal dominant spastic paraplegia type 4
- Autosomal dominant thrombocytopenia with platelet secretion defect
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- Autosomal recessive axonal neuropathy with neuromyotonia
- Autosomal recessive epidermolytic ichthyosis
- Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
- Autosomal recessive non-syndromic intellectual disability
- Autosomal recessive progressive external ophthalmoplegia
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
- Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
- Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- Autosomal recessive spastic paraplegia type 55
- Autosomal spastic paraplegia type 30
- Autosomal systemic lupus erythematosus
- Autosomal thrombocytopenia with normal platelets
- Azathioprine or 6-mercatopurine toxicity or dose selection
- B4GALT1-CDG
- BENTA disease
- BRESEK syndrome
- Bannayan-Riley-Ruvalcaba syndrome
- Baraitser-Winter cerebrofrontofacial syndrome
- Barth syndrome
- Bathing suit ichthyosis
- Becker muscular dystrophy
- Becker nevus syndrome
- Beckwith-Wiedemann syndrome
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
- Behavioral variant of frontotemporal dementia
- Bernard-Soulier syndrome
- Beta-thalassemia-X-linked thrombocytopenia syndrome
- Biotinidase deficiency
- Birt-Hogg-Dubé syndrome
- Blackfan-Diamond anemia
- Bleeding diathesis due to glycoprotein VI deficiency
- Bleeding diathesis due to thromboxane synthesis deficiency
- Bleeding disorder due to CalDAG-GEFI deficiency
- Bleeding disorder due to P2Y12 defect
- Bleeding disorder in hemophilia A carriers
- Bleeding disorder in hemophilia B carriers
- Bloom syndrome
- Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
- Brugada syndrome
- CADDS
- CEDNIK syndrome
- CHILD syndrome
- CK syndrome
- CLOVES syndrome
- COG1-CDG
- COG2-CDG
- COG4-CDG
- COG5-CDG
- COG6-CGD
- COG7-CDG
- COG8-CDG
- Carbamoyl-phosphate synthetase 1 deficiency
- Cardiofaciocutaneous syndrome
- Carvajal syndrome
- Catecholaminergic polymorphic ventricular tachycardia
- Centripetalis recessive dystrophic epidermolysis bullosa
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
- Cerebral sinovenous thrombosis
- Charcot-Marie-Tooth disease type 1A
- Charcot-Marie-Tooth disease type 1B
- Charcot-Marie-Tooth disease type 1D
- Charcot-Marie-Tooth disease type 1E
- Charcot-Marie-Tooth disease type 1F
- Charcot-Marie-Tooth disease type 2B2
- Charcot-Marie-Tooth disease type 2B5
- Charcot-Marie-Tooth disease type 2H
- Charcot-Marie-Tooth disease type 4A
- Charcot-Marie-Tooth disease type 4B3
- Charcot-Marie-Tooth disease type 4E
- Charcot-Marie-Tooth disease type 4H
- Chronic granulomatous disease
- Chronic mucocutaneous candidiasis
- Chronic myeloid leukemia
- Chronic respiratory distress with surfactant metabolism deficiency
- Chédiak-Higashi syndrome
- Classic galactosemia
- Classic maple syrup urine disease
- Coeliac disease
- Combined deficiency of factor V and factor VIII
- Combined immunodeficiency due to partial RAG1 deficiency
- Combined immunodeficiency with faciooculoskeletal anomalies
- Combined immunodeficiency with granulomatosis
- Common variable immunodeficiency
- Congenital alpha2-antiplasmin deficiency
- Congenital amegakaryocytic thrombocytopenia
- Congenital autosomal recessive small-platelet thrombocytopenia
- Congenital bilateral absence of vas deferens
- Congenital disorder of glycosylation
- Congenital dyserythropoietic anemia type III
- Congenital erythropoietic porphyria
- Congenital factor II deficiency
- Congenital factor V deficiency
- Congenital factor VII deficiency
- Congenital factor X deficiency
- Congenital factor XI deficiency
- Congenital factor XII deficiency
- Congenital factor XIII deficiency
- Congenital fiber-type disproportion myopathy
- Congenital high-molecular-weight kininogen deficiency
- Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
- Congenital muscular dystrophy due to LMNA mutation
- Congenital muscular dystrophy with intellectual disability
- Congenital muscular dystrophy with intellectual disability and severe epilepsy
- Congenital muscular dystrophy without intellectual disability
- Congenital muscular dystrophy, Fukuyama type
- Congenital myasthenic syndromes with glycosylation defect
- Congenital non-bullous ichthyosiform erythroderma
- Congenital plasminogen activator inhibitor type 1 deficiency
- Congenital prekallikrein deficiency
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- Congenital reticular ichthyosiform erythroderma
- Congenital thrombotic thrombocytopenic purpura
- Constitutional mismatch repair deficiency syndrome
- Costello syndrome
- Cowden syndrome
- Cutaneous mastocytoma
- Cyclic neutropenia
- Cystic fibrosis
- Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
- DDOST-CDG
- DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
- DITRA
- DK1-CDG
- DPAGT1-CDG
- DPM1-CDG
- DPM3-CDG
- DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Deafness-lymphedema-leukemia syndrome
- Dejerine-Sottas syndrome
- Dermatosparaxis Ehlers-Danlos syndrome
- Diffuse palmoplantar keratoderma with painful fissures
- Dihydropyrimidine dehydrogenase deficiency
- Distal hereditary motor neuropathy type 2
- Distal hereditary motor neuropathy type 5
- Dowling-Degos disease
- Down syndrome
- Drug- or toxin-induced pulmonary arterial hypertension
- Duchenne muscular dystrophy
- Dyskeratosis congenita
- Early-onset autosomal dominant Alzheimer disease
- Early-onset generalized limb-onset dystonia
- Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
- East Texas bleeding disorder
- Ebstein malformation of the tricuspid valve
- Endometrial Cancer
- Epidermolysis bullosa simplex due to BP230 deficiency
- Epidermolysis bullosa simplex due to exophilin 5 deficiency
- Epidermolysis bullosa simplex superficialis
- Epidermolysis bullosa simplex with circinate migratory erythema
- Epidermolysis bullosa simplex with mottled pigmentation
- Epidermolysis bullosa simplex with pyloric atresia
- Epidermolytic palmoplantar keratoderma
- Epithelial recurrent erosion dystrophy
- Epithelioid hemangioendothelioma
- Erythrocyte galactose epimerase deficiency
- Erythrokeratodermia variabilis
- Erythrokeratodermia-cardiomyopathy syndrome
- Essential thrombocythemia
- Exfoliative ichthyosis
- F12-related hereditary angioedema with normal C1Inh
- Fabry disease
- Facioscapulohumeral dystrophy
- Familial abdominal aortic aneurysm
- Familial adenomatous polyposis
- Familial afibrinogenemia
- Familial atrial fibrillation
- Familial atypical multiple mole melanoma syndrome
- Familial bicuspid aortic valve
- Familial cerebral saccular aneurysm
- Familial dysfibrinogenemia
- Familial hemophagocytic lymphohistiocytosis
- Familial hypocalciuric hypercalcemia type 1
- Familial hypodysfibrinogenemia
- Familial hypofibrinogenemia
- Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
- Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
- Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
- Familial isolated dilated cardiomyopathy
- Familial isolated hyperparathyroidism
- Familial isolated restrictive cardiomyopathy
- Familial medullary thyroid carcinoma
- Familial melanoma
- Familial multiple meningioma
- Familial multiple nevi flammei
- Familial or sporadic hemiplegic migraine
- Familial pancreatic carcinoma
- Familial paroxysmal ataxia
- Familial platelet disorder with associated myeloid malignancy
- Familial progressive cardiac conduction defect
- Familial prostate cancer
- Familial rhabdoid tumor
- Familial short QT syndrome
- Familial sick sinus syndrome
- Familial thoracic aortic aneurysm and aortic dissection
- Familial thrombocytosis
- Familial vesicoureteral reflux
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
- Ferro-cerebro-cutaneous syndrome
- Fetal and neonatal alloimmune thrombocytopenia
- Focal palmoplantar keratoderma with joint keratoses
- Fragile X syndrome
- Fragile X-associated tremor/ataxia syndrome
- Fraser syndrome
- Frasier syndrome
- Friedreich ataxia
- Frontotemporal dementia with motor neuron disease
- Fryns syndrome
- GTP cyclohydrolase I deficiency
- Galactokinase deficiency
- Gastric adenocarcinoma and proximal polyposis of the stomach
- Gaucher disease type 1
- Gaucher disease type 3
- Generalized galactose epimerase deficiency
- Generalized pustular psoriasis
- Ghosal hematodiaphyseal dysplasia
- Giant axonal neuropathy
- Gilbert syndrome (NON RARE IN EUROPE)
- Glanzmann thrombasthenia
- Glycogen storage disease due to LAMP-2 deficiency
- Gorlin syndrome
- Gray platelet syndrome
- HNF1B-related autosomal dominant tubulointerstitial kidney disease
- Harlequin ichthyosis
- Heart-hand syndrome, Slovenian type
- Hemochromatosis type 1 (NON RARE IN EUROPE)
- Hemophilia A
- Hemophilia B
- Hereditary breast and ovarian cancer syndrome
- Hereditary breast cancer
- Hereditary chronic pancreatitis
- Hereditary clear cell renal cell carcinoma
- Hereditary combined deficiency of vitamin K-dependent clotting factors
- Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
- Hereditary fructose intolerance
- Hereditary hemorrhagic telangiectasia
- Hereditary hypotrichosis with recurrent skin vesicles
- Hereditary isolated aplastic anemia
- Hereditary late-onset Parkinson disease
- Hereditary leiomyomatosis and renal cell cancer
- Hereditary neuropathy with liability to pressure palsies
- Hereditary neutrophilia
- Hereditary nonpolyposis colorectal cancer
- Hereditary papillary renal cell carcinoma
- Hereditary pheochromocytoma-paraganglioma
- Hereditary pulmonary alveolar proteinosis
- Hereditary retinoblastoma
- Hereditary sensorimotor neuropathy with hyperelastic skin
- Hereditary sensory and autonomic neuropathy type 1
- Hereditary sensory and autonomic neuropathy type 2
- Hereditary sensory and autonomic neuropathy type 6
- Hereditary sensory and autonomic neuropathy type 8
- Hereditary site-specific ovarian cancer syndrome
- Hereditary spastic paraplegia
- Hereditary thrombocytopenia with early-onset myelofibrosis
- Hereditary thrombophilia due to congenital antithrombin deficiency
- Heritable pulmonary arterial hypertension
- Hermansky-Pudlak syndrome due to AP-3 deficiency
- Hermansky-Pudlak syndrome due to BLOC-1 deficiency
- Hermansky-Pudlak syndrome due to BLOC-2 deficiency
- Hermansky-Pudlak syndrome due to BLOC-3 deficiency
- Hermansky-Pudlak syndrome type 8
- Hermansky-Pudlak syndrome type 9
- Hidrotic ectodermal dysplasia
- Hirschsprung disease
- Holocarboxylase synthetase deficiency
- Homozygous familial hypercholesterolemia
- Hoyeraal-Hreidarsson syndrome
- Huntington disease
- Huntington disease-like syndrome due to C9ORF72 expansions
- Hyper-IgM syndrome type 3
- Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
- Hyperparathyroidism-jaw tumor syndrome
- Hyperphosphatasia-intellectual disability syndrome
- Hypohidrotic ectodermal dysplasia with immunodeficiency
- Hypomyelination neuropathy-arthrogryposis syndrome
- Hypoplasminogenemia
- Hypoplastic left heart syndrome
- Hypotrichosis simplex
- Hypotrichosis simplex of the scalp
- Ichthyosis follicularis-alopecia-photophobia syndrome
- Ichthyosis hystrix of Curth-Macklin
- Ichthyosis-hypotrichosis syndrome
- Ichthyosis-prematurity syndrome
- Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
- Idiopathic aplastic anemia
- Idiopathic bronchiectasis
- Idiopathic pulmonary fibrosis
- Idiopathic ventricular fibrillation, non Brugada type
- Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
- Infant acute respiratory distress syndrome
- Infantile spasms syndrome
- Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
- Inherited epidermolysis bullosa
- Intermediate generalized junctional epidermolysis bullosa
- Intermediate maple syrup urine disease
- Intermittent maple syrup urine disease
- Interstitial lung disease due to ABCA3 deficiency
- Interstitial lung disease due to SP-C deficiency
- Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
- Irinotecan toxicity
- Isolated focal non-epidermolytic palmoplantar keratoderma
- Jervell and Lange-Nielsen syndrome
- Junctional epidermolysis bullosa with pyloric atresia
- Juvenile myelomonocytic leukemia
- KID syndrome
- KRT1-related diffuse nonepidermolytic keratoderma
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- Kennedy disease
- Keratoderma hereditarium mutilans
- Keratoderma hereditarium mutilans with ichthyosis
- Keratosis follicularis spinulosa decalvans
- Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
- Kindler epidermolysis bullosa
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
- Kostmann syndrome
- Lamellar ichthyosis
- Large congenital melanocytic nevus
- Late-onset distal myopathy, Markesbery-Griggs type
- Late-onset junctional epidermolysis bullosa
- Left ventricular noncompaction
- Legius syndrome
- Lethal acantholytic erosive disorder
- Lethal hydranencephaly-diaphragmatic hernia syndrome
- Leukocyte adhesion deficiency type II
- Leukocyte adhesion deficiency type III
- Li-Fraumeni syndrome
- Localized dystrophic epidermolysis bullosa, acral form
- Localized dystrophic epidermolysis bullosa, nails only
- Localized dystrophic epidermolysis bullosa, pretibial form
- Localized epidermolysis bullosa simplex
- Localized junctional epidermolysis bullosa
- Lynch syndrome
- MAN1B1-CDG
- MEDNIK syndrome
- MEND syndrome
- MGAT2-CDG
- MIRAGE syndrome
- MOGS-CDG
- MPDU1-CDG
- MPI-CDG
- MUTYH-related attenuated familial adenomatous polyposis
- MYH9-related disease
- Machado-Joseph disease type 1
- Machado-Joseph disease type 2
- Machado-Joseph disease type 3
- Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- Maffucci syndrome
- Maligant granulosa cell tumor of the ovary
- Malignant Sertoli-Leydig cell tumor of the ovary
- McCune-Albright syndrome
- Meacham syndrome
- Medulloblastoma
- Medulloblastoma with extensive nodularity
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
- Meningioma
- Menkes disease
- Mild hemophilia A
- Mild hemophilia B
- Moderate hemophilia A
- Moderate hemophilia B
- Monilethrix
- Monocytopenia with susceptibility to infections
- Multiple congenital anomalies-hypotonia-seizures syndrome type 2
- Multiple endocrine neoplasia type 1
- Multiple endocrine neoplasia type 2A
- Multiple endocrine neoplasia type 2B
- Multiple endocrine neoplasia type 4
- Multiple sulfatase deficiency
- Muscle-eye-brain disease
- Muscular dystrophy, Selcen type
- Musculocontractural Ehlers-Danlos syndrome
- Mutilating hereditary sensory neuropathy with spastic paraplegia
- Mutilating palmoplantar keratoderma with periorificial keratotic plaques
- Myelodysplastic syndrome
- Narcolepsy type 1
- Narcolepsy type 2
- Naxos disease
- Neonatal acute respiratory distress due to SP-B deficiency
- Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
- Neonatal ichthyosis-sclerosing cholangitis syndrome
- Neonatal inflammatory skin and bowel disease
- Neonatal severe primary hyperparathyroidism
- Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18
- Nephroblastoma
- Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
- Netherton syndrome
- Neuralgic amyotrophy
- Neuroblastoma
- Neurofibromatosis type 1
- Neurofibromatosis-Noonan syndrome
- Neuropathy with hearing impairment
- Neutral lipid storage disease with ichthyosis
- Nijmegen breakage syndrome
- Nodular urticaria pigmentosa
- Non-hereditary retinoblastoma
- Non-specific early-onset epileptic encephalopathy
- Noonan syndrome
- Noonan syndrome with multiple lentigines
- Noonan syndrome-like disorder with loose anagen hair
- Oculopharyngeal muscular dystrophy
- Omenn syndrome
- PGM1-CDG
- PGM3-CDG
- PLG-related hereditary angioedema with normal C1Inh
- PMM2-CDG
- Pachyonychia congenita
- Palmoplantar keratoderma-deafness syndrome
- Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
- Paris-Trousseau thrombocytopenia
- Parkinson-dementia complex of Guam
- Parkinsonian-pyramidal syndrome
- Paroxysmal nocturnal hemoglobinuria
- Partial chromosome Y deletion
- Paternal uniparental disomy of chromosome 7
- Peeling skin syndrome type A
- Peeling skin syndrome type B
- Perrault syndrome
- Persistent polyclonal B-cell lymphocytosis
- Peters plus syndrome
- Peutz-Jeghers syndrome
- Pityriasis rubra pilaris
- Plaque-form urticaria pigmentosa
- Poikiloderma with neutropenia
- Polycythemia vera
- Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
- Pontocerebellar hypoplasia type 1
- Prader-Willi syndrome due to imprinting mutation
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
- Primary ciliary dyskinesia
- Primary ciliary dyskinesia-retinitis pigmentosa syndrome
- Primary hypereosinophilic syndrome
- Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
- Progressive symmetric erythrokeratodermia
- Propionic acidemia
- Proteus syndrome
- Proximal spinal muscular atrophy type 1
- Proximal spinal muscular atrophy type 2
- Proximal spinal muscular atrophy type 3
- Proximal spinal muscular atrophy type 4
- Pseudo-von Willebrand disease
- Pulmonary alveolar microlithiasis
- Pulmonary venoocclusive disease
- Pustulosis palmaris et plantaris
- Pyruvate dehydrogenase E3 deficiency
- Quebec platelet disorder
- RAS-associated autoimmune leukoproliferative disease
- RFT1-CDG
- Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
- Recessive X-linked ichthyosis
- Recessive dystrophic epidermolysis bullosa inversa
- Refractory anemia
- Refractory anemia with excess blasts type 1
- Refractory anemia with excess blasts type 2
- Refsum disease
- Renal cell carcinoma
- Rendu Osler Weber
- Rett syndrome
- Revesz syndrome
- Rhizomelic chondrodysplasia punctata type 1
- Romano-Ward syndrome
- SLC35A1-CDG
- SRD5A3-CDG
- STAT3-related early-onset multisystem autoimmune disease
- STT3A-CDG
- STT3B-CDG
- SURF1-related Charcot-Marie-Tooth disease type 4
- Salt-and-pepper syndrome
- Schneckenbecken dysplasia
- Schwannomatosis
- Scott syndrome
- Self-improving collodion baby
- Self-improving dystrophic epidermolysis bullosa
- Semantic dementia
- Severe autosomal recessive macrothrombocytopenia
- Severe combined immunodeficiency due to CARD11 deficiency
- Severe combined immunodeficiency due to DCLRE1C deficiency
- Severe combined immunodeficiency due to complete RAG1/2 deficiency
- Severe dermatitis-multiple allergies-metabolic wasting syndrome
- Severe hemophilia A
- Severe hemophilia B
- Severe hereditary thrombophilia due to congenital protein C deficiency
- Severe hereditary thrombophilia due to congenital protein S deficiency
- Shwachman-Diamond syndrome
- Sialuria
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
- Sinoatrial node dysfunction and deafness
- Sitosterolemia
- Sjögren-Larsson syndrome
- Small cell carcinoma of the ovary
- Sneddon syndrome
- Spinal muscular atrophy with respiratory distress type 1
- Spinal muscular atrophy with respiratory distress type 2
- Spinocerebellar Ataxias
- Spinocerebellar ataxia type 1
- Spinocerebellar ataxia type 2
- Spinocerebellar ataxia type 6
- Spinocerebellar ataxia type 7
- Steinert myotonic dystrophy
- Stormorken-Sjaastad-Langslet syndrome
- Striate palmoplantar keratoderma
- Sturge-Weber syndrome
- Superficial epidermolytic ichthyosis
- Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
- Symptomatic form of fragile X syndrome in female carriers
- Symptomatic form of hemochromatosis type 1
- Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
- Syndromic recessive X-linked ichthyosis
- Systemic lupus erythematosus
- Sézary syndrome
- T-B+ severe combined immunodeficiency due to gamma chain deficiency
- TMEM165-CDG
- Temple syndrome due to maternal uniparental disomy of chromosome 14
- Tetralogy of Fallot
- Thiamine-responsive maple syrup urine disease
- Thrombocythemia with distal limb defects
- Thrombocytopenia with congenital dyserythropoietic anemia
- Thrombocytopenia-absent radius syndrome
- Thrombomodulin-related bleeding disorder
- Timothy syndrome
- Transient familial neonatal hyperbilirubinemia
- Trichothiodystrophy
- Triple A syndrome
- Trisomy 13
- Trisomy 18
- Typical urticaria pigmentosa
- Uveal melanoma
- Vascular Ehlers-Danlos syndrome
- Vasculitis due to ADA2 deficiency
- Vitamin B12-unresponsive methylmalonic acidemia type mut-
- Vitamin B12-unresponsive methylmalonic acidemia type mut0
- Von Hippel-Lindau disease
- Von Willebrand disease type 1
- Von Willebrand disease type 2A
- Von Willebrand disease type 2B
- Von Willebrand disease type 2M
- Von Willebrand disease type 2N
- Von Willebrand disease type 3
- WAGR syndrome
- WHIM syndrome
- Walker-Warburg syndrome
- Wiskott-Aldrich syndrome
- Woolly hair nevus
- X-linked Charcot-Marie-Tooth disease type 1
- X-linked Charcot-Marie-Tooth disease type 6
- X-linked agammaglobulinemia
- X-linked dominant chondrodysplasia punctata
- X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
- X-linked hyper-IgM syndrome
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- X-linked lymphoproliferative disease
- X-linked lymphoproliferative disease due to SH2D1A deficiency
- X-linked lymphoproliferative disease due to XIAP deficiency
- X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
- X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome
- X-linked severe congenital neutropenia
- X-linked thrombocytopenia with normal platelets
- Xeroderma pigmentosum-Cockayne syndrome complex
- Young-onset Parkinson disease
-
Inherited Peripheral Neuropathies gene panel (139 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 0 NM_001605.2 ABCD1 100.00 0 NM_000033.3 ABHD12 98.00 0 NM_001042472.2 AGTPBP1 99.90 0 NM_001286715.1 AIFM1 100.00 0 NM_004208.3 APTX 99.00 0 NM_175073.2 ARHGEF10 100.00 0 NM_014629.3 ATL1 100.00 0 NM_015915.4 ATL3 100.00 0 NM_015459.4 ATP1A1 100.00 0 NM_000701.7 ATP7A 100.00 0 NM_000052.6 BAG3 100.00 0 NM_004281.3 BICD2 100.00 0 NM_001003800.1 BSCL2 100.00 0 NM_032667.6 MTRFR 100.00 0 NM_152269.4 CCT5 100.00 0 NM_012073.4 CD59 100.00 0 NM_203330.2 CNTNAP1 100.00 0 NM_003632.2 COA7 100.00 0 NM_023077.2 COX6A1 100.00 0 NM_004373.3 CTDP1 98.90 0 NM_004715.4 DCAF8 100.00 0 NM_015726.3 DCTN1 100.00 0 NM_004082.4 DGAT2 100.00 0 NM_032564.4 DHTKD1 99.90 0 NM_018706.6 DNAJB2 100.00 0 NM_001039550.1 DNM2 100.00 0 NM_001005360.2 DNMT1 99.50 0 NM_001130823.2 DRP2 100.00 0 NM_001939.2 DST 100.00 0 NM_001723.5 DYNC1H1 100.00 0 NM_001376.4 EGR2 100.00 0 NM_000399.4 ELP1 100.00 0 NM_003640.4 FBLN5 100.00 0 NM_006329.3 FBXO38 100.00 0 NM_030793.4 FGD4 100.00 0 NM_139241.3 FIG4 100.00 0 NM_014845.5 FLVCR1 100.00 0 NM_014053.3 GAN 100.00 0 NM_022041.3 GARS1 100.00 0 NM_002047.3 GDAP1 100.00 0 NM_018972.3 GJB1 100.00 0 NM_000166.5 GJB3 100.00 0 NM_024009.2 GLA 100.00 0 NM_000169.2 GNB4 100.00 0 NM_021629.3 HADHA 100.00 0 NM_000182.4 HADHB 100.00 0 NM_000183.2 HARS1 100.00 0 NM_002109.5 HINT1 100.00 0 NM_005340.6 HK1 100.00 0 NM_000188.2 HOXD10 100.00 0 NM_002148.3 HSPB1 99.00 0 NM_001540.4 HSPB3 100.00 0 NM_006308.2 HSPB8 100.00 0 NM_014365.2 IARS2 100.00 0 NM_018060.3 IFRD1 99.90 0 NM_001550.3 IGHMBP2 100.00 0 NM_002180.2 INF2 98.80 0 NM_022489.3 ITPR3 99.50 0 NM_002224.3 KARS1 100.00 0 NM_001130089.1 KIF1A 99.90 0 NM_004321.7 KIF1B 100.00 0 NM_015074.3 KIF5A 100.00 0 NM_004984.3 KLHL13 100.00 0 NM_033495.3 LITAF 100.00 0 NM_004862.3 LMNA 99.90 0 NM_170707.3 LRSAM1 100.00 0 NM_138361.5 MARS1 100.00 0 NM_004990.3 MCM3AP 100.00 0 NM_003906.4 MED25 100.00 0 NM_030973.3 MFN2 100.00 0 NM_014874.3 MME 100.00 0 NM_007289.3 MORC2 100.00 0 NM_001303256.2 MPV17 100.00 0 NM_002437.4 MPZ 100.00 0 NM_000530.7 MTMR2 100.00 0 NM_016156.5 MYH7B 99.80 0 NM_024729.3 NAGLU 99.70 0 NM_000263.3 NDRG1 100.00 0 NM_006096.3 NEFH 99.50 0 NM_021076.3 NEFL 99.60 0 NM_006158.4 NGF 100.00 0 NM_002506.2 NTRK1 100.00 0 NM_001012331.1 MED12 100.00 0 NM_015560.2 OPA3 100.00 0 NM_025136.3 PDK3 100.00 0 NM_001142386.2 PDXK 100.00 0 NM_003681.4 PEX1 100.00 0 NM_000466.2 PEX7 100.00 0 NM_000288.3 PHYH 100.00 0 NM_006214.3 PLEKHG5 99.80 0 NM_020631.4 PMP2 100.00 0 NM_002677.4 PMP22 100.00 0 NM_000304.3 PNKP 99.80 0 NM_007254.3 POLG 100.00 0 NM_002693.2 PRDM12 90.30 0 NM_021619.2 PRNP 100.00 0 NM_000311.4 PRPS1 100.00 0 NM_002764.3 PRX 100.00 0 NM_181882.2 RAB7A 100.00 0 NM_004637.5 REEP1 100.00 0 NM_022912.2 RETREG1 99.40 0 NM_001034850.2 SBF1 99.70 0 NM_002972.3 SBF2 100.00 0 NM_030962.3 SCN10A 100.00 0 NM_006514.3 SCN11A 99.80 0 NM_014139.2 SCN9A 100.00 0 NM_002977.3 SCO2 100.00 0 NM_005138.2 SCP2 100.00 0 NM_002979.4 SEPTIN9 99.20 0 NM_006640.4 SETX 100.00 0 NM_015046.6 SGPL1 100.00 0 NM_003901.3 SH3BP4 100.00 0 NM_014521.2 SH3TC2 100.00 0 NM_024577.3 SIGMAR1 100.00 0 NM_005866.3 SLC12A6 100.00 0 NM_133647.1 SLC25A46 100.00 0 NM_138773.3 SLC5A7 100.00 0 NM_021815.4 SORD 91.20 0 NM_003104.5 SOX10 100.00 0 NM_006941.3 SPG11 100.00 0 NM_025137.3 SPTLC1 100.00 0 NM_006415.3 SPTLC2 100.00 0 NM_004863.3 SURF1 99.00 0 NM_003172.3 TDP1 100.00 0 NM_018319.3 TECPR2 100.00 0 NM_014844.4 TFG 100.00 0 NM_006070.5 TRIM2 100.00 0 NM_001130067.1 TRPA1 100.00 0 NM_007332.2 TRPV4 99.90 0 NM_021625.4 TTR 100.00 0 NM_000371.3 TUBB3 100.00 0 NM_006086.3 TWNK 100.00 0 NM_021830.4 TYMP 100.00 0 NM_001953.4 VCP 99.90 0 NM_007126.4 VRK1 100.00 0 NM_003384.2 WARS1 99.80 0 NM_004184.3 WNK1 99.80 0 NM_018979.3 YARS1 100.00 0 NM_003680.3 -
Alzheimer erly-onset disease (3 genes) -KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APP 100.00 1 PSEN1 100.00 1 PSEN2 100.00 1 -
Amyotrophic lateral sclerosis (5 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments SOD1 100.00 1 TARDBP 100.00 1 FUS 100.00 1 MAPT 100.00 1 GRN 100.00 1 -
Ataxia (141 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments BEAN1 85.90 0 NM_001178020.2 KCNC3 88.90 0 NM_004977.2 SYT14 92.90 0 NM_001146261.2 PTF1A 94.90 0 NM_178161.2 ATXN10 95.40 0 NM_013236.3 ATXN2 96.20 0 NM_002973.3 FXN 96.40 0 NM_000144.4 ATXN3 97.20 0 NM_004993.5 TTC19 98.00 0 NM_017775.3 ATXN7 98.00 0 NM_000333.3 ABHD12 98.00 0 NM_001042472.2 FMR1 98.50 0 NM_002024.5 DAB1 98.80 0 NM_021080.4 CACNA2D2 98.90 0 NM_006030.3 APTX 99.00 0 NM_175073.2 TBP 99.30 0 NM_003194.4 CLN6 99.30 0 NM_017882.2 EIF2B2 99.50 0 NM_014239.3 CP 99.50 0 NM_000096.3 DNMT1 99.50 0 NM_001130823.2 MTPAP 99.50 0 NM_018109.3 PRRT2 99.60 0 NM_145239.2 DARS2 99.70 0 NM_018122.4 PNKP 99.80 0 NM_007254.3 CLCN2 99.80 0 NM_004366.5 PNPLA6 99.80 0 NM_006702.4 CACNA1A 99.80 0 NM_001127221.1 ATN1 99.80 0 NM_001007026.1 AFG3L2 99.80 0 NM_006796.2 AMPD2 99.80 0 NM_001257360.1 TRPC3 99.80 0 NM_001130698.1 GRM1 99.90 0 NM_001278064.1 TPP1 99.90 0 NM_000391.3 CACNA1G 99.90 0 NM_018896.4 ATP8A2 99.90 0 NM_016529.5 NPC1 99.90 0 NM_000271.4 PRKCG 99.90 0 NM_002739.4 SPG7 99.90 0 NM_003119.3 ATXN1 99.90 0 NM_000332.3 IFRD1 99.90 0 NM_001550.3 NKX6-2 99.90 0 NM_177400.2 TK2 99.90 0 NM_004614.4 TGM6 99.90 0 NM_198994.2 COX20 99.90 0 NM_198076.5 SLC9A1 100.00 0 NM_003047.4 TTPA 100.00 0 NM_000370.3 ATP2B3 100.00 0 NM_001001344.2 EIF2B4 100.00 0 NM_015636.3 PEX7 100.00 0 NM_000288.3 ANO10 100.00 0 NM_018075.4 SPTBN2 100.00 0 NM_006946.3 ITPR1 100.00 0 NM_002222.5 RUBCN 100.00 0 NM_001145642.4 PEX10 100.00 0 NM_153818.1 TMEM240 100.00 0 NM_001114748.1 WDR81 100.00 0 NM_001163809.1 CACNB4 100.00 0 NM_000726.4 ATM 100.00 0 NM_000051.3 VWA3B 100.00 0 NM_144992.4 AP1S2 100.00 0 NM_003916.4 SYNE1 100.00 0 NM_033071.3 SCYL1 100.00 0 NM_020680.3 STUB1 100.00 0 NM_005861.3 SLC1A3 100.00 0 NM_004172.4 LAMA1 100.00 0 NM_005559.3 NOP56 100.00 0 NM_006392.3 CYP27A1 100.00 0 NM_000784.3 KCNA1 100.00 0 NM_000217.2 SETX 100.00 0 NM_015046.6 CLN5 100.00 0 NM_006493.2 EIF2B3 100.00 0 NM_020365.4 PUM1 100.00 0 NM_001020658.1 MRE11 100.00 0 NM_005591.3 WWOX 100.00 0 NM_016373.3 GFAP 100.00 0 NM_002055.4 VLDLR 100.00 0 NM_003383.4 GBA2 100.00 0 NM_020944.2 KIF1C 100.00 0 NM_006612.5 CWF19L1 100.00 0 NM_018294.5 CCDC88C 100.00 0 NM_001080414.3 SACS 100.00 0 NM_014363.5 AAAS 100.00 0 NM_015665.5 ABCB7 100.00 0 NM_004299.5 ACO2 100.00 0 NM_001098.2 ARSA 100.00 0 NM_000487.5 ATCAY 100.00 0 NM_033064.4 ATG5 100.00 0 NM_004849.3 ATP1A3 100.00 0 NM_152296.5 CA8 100.00 0 NM_004056.5 CAPN1 100.00 0 NM_001198868.1 COQ8A 100.00 0 NM_020247.4 DNAJC19 100.00 0 NM_145261.3 DNAJC3 100.00 0 NM_006260.4 DNAJC5 100.00 0 NM_025219.2 EEF2 100.00 0 NM_001961.3 EIF2B1 100.00 0 NM_001414.3 EIF2B5 100.00 0 NM_003907.2 ELOVL4 100.00 0 NM_022726.3 ELOVL5 100.00 0 NM_021814.4 EXOSC3 100.00 0 NM_016042.3 FGF14 100.00 0 NM_004115.3 FLVCR1 100.00 0 NM_014053.3 FOLR1 100.00 0 NM_016725.2 GOSR2 100.00 0 NM_004287.4 GRID2 100.00 0 NM_001510.3 HEXA 100.00 0 NM_000520.5 HEXB 100.00 0 NM_000521.3 KCND3 100.00 0 NM_004980.4 KCNJ10 100.00 0 NM_002241.4 MARS2 100.00 0 NM_138395.3 MME 100.00 0 NM_007289.3 MTTP 100.00 0 NM_000253.3 NPC2 100.00 0 NM_006432.3 OPA1 100.00 0 NM_015560.2 PDYN 100.00 0 NM_024411.4 PHYH 100.00 0 NM_006214.3 PIK3R5 100.00 0 NM_001142633.2 PMM2 100.00 0 NM_000303.2 PMPCA 100.00 0 NM_015160.2 POLG 100.00 0 NM_002693.2 POLR3A 100.00 0 NM_007055.3 PPP2R2B 100.00 0 NM_181678.2 PRICKLE1 100.00 0 NM_153026.2 RNF170 100.00 0 NM_001160223.1 RNF216 100.00 0 NM_207111.3 SAMD9L 100.00 0 NM_152703.4 SEPSECS 100.00 0 NM_016955.3 SIL1 100.00 0 NM_022464.4 SLC52A2 100.00 0 NM_024531.4 SNX14 100.00 0 NM_153816.5 SRD5A3 100.00 0 NM_024592.4 TDP1 100.00 0 NM_018319.3 TDP2 100.00 0 NM_016614.2 TTBK2 100.00 0 NM_173500.3 TUBB4A 100.00 0 NM_006087.3 TWNK 100.00 0 NM_021830.4 VAMP1 100.00 0 NM_014231.4 WFS1 100.00 0 NM_006005.3 XRCC1 100.00 0 NM_006297.2 ZNF592 100.00 0 NM_014630.2 ATXN8OS 100.00 0 NG_016173.1 -
Breast/ ovarian cancer (15 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments RAD51C 100.00 1 RAD51D 100.00 1 BRCA1 100.00 1 BRCA2 100.00 1 TP53 100.00 1 CHEK2 100.00 1 MLH1 100.00 1 MSH2 100.00 1 MSH6 100.00 1 BRIP1 100.00 1 ATM 100.00 1 PALB2 100.00 1 CDH1 100.00 1 NBN 100.00 1 PTEN 100.00 1 -
Cardiopathies, hereditary (102 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 95.00 0 NM_005691.4 / interpretable range CS1>95% ACTC1 95.00 0 NM_005159.5 / interpretable range CS1>95% ACTN2 95.00 0 NM_001103.4 / nterpretable range CS1>95% AKAP9 95.00 0 NM_005751.5 /interpretable range CS1>95% ANK2 95.00 0 NM_001148.6 / interpretable range CS1>95% ANKRD1 95.00 0 NM_014391.3 / interpretable range CS1>95% BAG3 95.00 0 NM_004281.4 / interpretable range CS1>95% CACNA1C 95.00 0 NM_000719.7 / interpretable range CS1>95% CACNA1D 95.00 0 NM_000720.4 / interpretable range CS1>95% CACNA2D1 95.00 0 NM_000722.4 / interpretable range CS1>95% CACNB2 95.00 0 NM_201590.3 / interpretable range CS1>95% CALM1 95.00 0 NM_006888.6 / interpretable range CS1>95% CALM2 95.00 0 NM_001743.6 / interpretable range CS1>95% CALM3 95.00 0 NM_005184.4 / interpretable range CS1>95% CALR3 95.00 0 NM_145046.5 / interpretable range CS1>95% CASQ2 95.00 0 NM_001232.4 / interpretable range CS1>95% CAV3 95.00 0 NM_033337.3 / interpretable range CS1>95% CDH2 95.00 0 NM_001792.5 / interpretable range CS1>95% CRYAB 95.00 0 NM_001885.3 / interpretable range CS1>95% CSRP3 95.00 0 NM_003476.5 / interpretable range CS1>95% CTNNA3 95.00 0 NM_013266.4 / interpretable range CS1>95% DES 95.00 0 NM_001927.4 / interpretable range CS1>95% DSC3 95.00 0 NM_024422.6 / interpretable range CS1>95% DSG2 95.00 0 NM_001943.5 / interpretable range CS1>95% DSP 95.00 0 NM_004415.4 / interpretable range CS1>95% DTNA 95.00 0 NM_001390.4 / interpretable range CS1>95% CFH 95.00 0 NM_001449.5 / interpretable range CS1>95% FHOD3 95.00 0 NM_025135.5 / interpretable range CS1>95% FKTN 95.00 0 NM_001079802.2 / interpretable range CS1>95% FLNC 95.00 0 NM_001458.5 / interpretable range CS1>95% GJA5 95.00 0 NM_005266.7 / interpretable range CS1>95% GLA 95.00 0 NM_000169.3 / interpretable range CS1>95% GPD1L 95.00 0 NM_015141.4 / interpretable range CS1>95% HCN4 95.00 0 NM_005477.3 / interpretable range CS1>95% JPH2 95.00 0 NM_020433.5 / interpretable range CS1>95% JUP 95.00 0 NM_002230.4 / interpretable range CS1>95% KCNA5 95.00 0 NM_002234.4 / interpretable range CS1>95% KCND2 95.00 0 NM_012281.3 / interpretable range CS1>95% KCND3 95.00 0 NM_004980.5 / interpretable range CS1>95% KCNE1 95.00 0 NM_000219.6 / interpretable range CS1>95% KCNE2 95.00 0 NM_172201.2 / interpretable range CS1>95% KCNE3 95.00 0 NM_005472.5 / interpretable range CS1>95% KCNE5 95.00 0 NM_012282.4 / interpretable range CS1>95% KCNH2 95.00 0 NM_000238.4 / interpretable range CS1>95% KCNJ2 95.00 0 NM_000891.3 / interpretable range CS1>95% KCNJ5 95.00 0 NM_000890.5 / interpretable range CS1>95% KCNJ8 95.00 0 NM_004982.4 / interpretable range CS1>95% KCNQ1 95.00 0 NM_000218.3 / interpretable range CS1>95% LAMA4 95.00 0 NM_002290.5 / interpretable range CS1>95% LAMP2 95.00 0 NM_002294.3 / interpretable range CS1>95% LDB3 95.00 0 NM_001080116.1 / interpretable range CS1>95% LMNA 95.00 0 NM_170707.4 / interpretable range CS1>95% MIB1 95.00 0 NM_020774.4 / interpretable range CS1>95% MYBPC3 95.00 0 NM_000256.3 / interpretable range CS1>95% / MLPA only in de frame of "Familial hypertrophic cardiomyopathy" MYH6 95.00 0 NM_002471.4 / interpretable range CS1>95% MYH7 95.00 0 NM_000257.4 / interpretable range CS1>95% MYL2 95.00 0 NM_000432.4 / interpretable range CS1>95% MYL3 95.00 0 NM_000258.3 / interpretable range CS1>95% MYLK2 95.00 0 NM_033118.4 / interpretable range CS1>95% MYOZ2 95.00 0 NM_016599.5 / interpretable range CS1>95% MYPN 95.00 0 NM_032578.4 / interpretable range CS1>95% NEXN 95.00 0 NM_144573.4 / interpretable range CS1>95% NKX2-5 95.00 0 NM_004387.4 / interpretable range CS1>95% NOS1AP 95.00 0 NM_014697.3 / interpretable range CS1>95% NPPA 95.00 0 NM_006172.4 / interpretable range CS1>95% NUP155 95.00 0 NM_153485.3 / interpretable range CS1>95% PITX2 95.00 0 NM_153427.2 / interpretable range CS1>95% PKP2 95.00 0 NM_004572.4 / interpretable range CS1>95% PLN 95.00 0 NM_002667.5 / interpretable range CS1>95% PRKAG2 95.00 0 NM_016203.4 / interpretable range CS1>95% RBM20 95.00 0 NM_001134363.3 / interpretable range CS1>95% RYR2 95.00 0 NM_001035.3 / interpretable range CS1>95% SLC4A3 95.00 0 NM_201574.2 / interpretable range CS1>95% SCN10A 95.00 0 NM_006514.4 / interpretable range CS1>95% SCN1B 95.00 0 NM_001037.5 / interpretable range CS1>95% SCN2B 95.00 0 NM_004588.5 / interpretable range CS1>95% SCN3B 95.00 0 NM_018400.4 / interpretable range CS1>95% SCN4B 95.00 0 NM_174934.4 / interpretable range CS1>95% SCN5A 95.00 0 NM_198056.3 / interpretable range CS1>95% SEMA3A 95.00 0 NM_006080.3 / interpretable range CS1>95% SGCD 95.00 0 NM_000337.6 / interpretable range CS1>95% SNTA1 95.00 0 NM_003098.3 / interpretable range CS1>95% WWTR1 95.00 0 NM_000116.5 / interpretable range CS1>95% TBX20 95.00 0 NM_001077653.2 / interpretable range CS1>95% TCAP 95.00 0 NM_003673.4 / interpretable range CS1>95% TECRL 95.00 0 NM_001010874.5 / interpretable range CS1>95% TGFB3 95.00 0 NM_003239.5 / interpretable range CS1>95% TJP1 95.00 0 NM_003257.5 / interpretable range CS1>95% TMEM43 95.00 0 NM_024334.3 / interpretable range CS1>95% TMPO 95.00 0 NM_003276.2 / interpretable range CS1>95% TNNI3 95.00 0 NM_000363.5 / interpretable range CS1>95% TNNI3K 95.00 0 NM_015978.3 / interpretable range CS1>95% TNNT2 95.00 0 NM_001001430.3 / interpretable range CS1>95% TPM1 95.00 0 NM_001018005.2 / interpretable range CS1>95% TRDN 95.00 0 NM_006073.4 / interpretable range CS1>95% TRIM63 95.00 0 NM_032588.4 / interpretable range CS1>95% TRPM4 95.00 0 NM_017636.4 / interpretable range CS1>95% TTN 95.00 0 NM_001267550.1 / interpretable range CS1>95% TTR 95.00 0 NM_000371.4 / interpretable range CS1>95% TXNRD2 95.00 0 NM_006440.5 / interpretable range CS1>95% VCL 95.00 0 NM_014000.3 / interpretable range CS1>95% -
Colorectal cancer/polyposis (18 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments MLH1 100.00 1 MSH2 100.00 1 MSH6 100.00 1 PMS2 100.00 1 EPCAM 100.00 1 POLD1 100.00 1 POLE 100.00 1 CHEK2 100.00 1 TP53 100.00 1 APC 100.00 1 STK11 100.00 1 BMPR1A 100.00 1 SMAD4 100.00 1 PTEN 100.00 1 RNF43 100.00 1 NTHL1 100.00 1 MSH3 100.00 1 MUTYH 100.00 1 -
Congenital disorder of glycosylation (3 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments PMM2 95.00 0 interpretable range CS1>95% MPI 95.00 0 interpretable range CS1>95% ALG6 95.00 0 interpretable range CS1>95% -
Congenital disorders of glycosylation (79 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ALDOB 95.00 0 NM_000035.3/ interpretable range CS1>95% ALG1 95.00 0 NM_019109.4/ interpretable range CS1>95% ALG10 95.00 0 NM_032834.3/ interpretable range CS1>95% ALG11 95.00 0 NM_001004127.2/ interpretable range CS1>95% ALG12 95.00 0 NM_024105.3/ interpretable range CS1>95% ALG13 95.00 0 NM_001099922.2/ interpretable range CS1>95% ALG14 95.00 0 NM_144988.3/ interpretable range CS1>95% ALG2 95.00 0 NM_033087.3/ interpretable range CS1>95% ALG3 95.00 0 NM_005787.5/ interpretable range CS1>95% ALG5 95.00 0 NM_013338.4/ interpretable range CS1>95% ALG6 95.00 0 NM_013339.3/ interpretable range CS1>95% ALG8 95.00 0 NM_024079.4/ interpretable range CS1>95% ALG9 95.00 0 NM_024740.2/ interpretable range CS1>95% ATP6V0A2 95.00 0 NM_012463.3/ interpretable range CS1>95% ATP9B 95.00 0 NM_198531.4/ interpretable range CS1>95% B3GLCT 95.00 0 NM_194318.3/ interpretable range CS1>95% B4GALT1 95.00 0 NM_001497.3/ interpretable range CS1>95% COG1 95.00 0 NM_018714.2/ interpretable range CS1>95% COG2 95.00 0 NM_007357.2/ interpretable range CS1>95% COG3 95.00 0 NM_031431.3/ interpretable range CS1>95% COG4 95.00 0 NM_015386.2/ interpretable range CS1>95% COG5 95.00 0 NM_006348.3/ interpretable range CS1>95% COG6 95.00 0 NM_020751.2/ interpretable range CS1>95% COG7 95.00 0 NM_153603.3/ interpretable range CS1>95% COG8 95.00 0 NM_032382.4/ interpretable range CS1>95% DAD1 95.00 0 NM_001344.3/ interpretable range CS1>95% DDOST 95.00 0 NM_005216.4/ interpretable range CS1>95% DHDDS 95.00 0 NM_024887.3/ interpretable range CS1>95% DOLK 95.00 0 NM_014908.3/ interpretable range CS1>95% DPAGT1 95.00 0 NM_001382.3/ interpretable range CS1>95% DPM1 95.00 0 NM_003859.2/ interpretable range CS1>95% DPM2 95.00 0 NM_003863.3/ interpretable range CS1>95% DPM3 95.00 0 NM_153741.1/ interpretable range CS1>95% FKRP 95.00 0 NM_024301.4/ interpretable range CS1>95% FKTN 95.00 0 NM_001079802.1/ interpretable range CS1>95% FUT1 95.00 0 NM_000148.3/ interpretable range CS1>95% GALE 95.00 0 NM_000403.3/ interpretable range CS1>95% GALK1 95.00 0 NM_000154.1/ interpretable range CS1>95% GALT 95.00 0 NM_000155.3/ interpretable range CS1>95% GFPT1 95.00 0 NM_002056.3/ interpretable range CS1>95% GMPPA 95.00 0 NM_205847.2/ interpretable range CS1>95% GMPPB 95.00 0 NM_013334.3/ interpretable range CS1>95% GNE 95.00 0 NM_001128227.2/ interpretable range CS1>95% LARGE1 95.00 0 NM_004737.6/ interpretable range CS1>95% MAGT1 95.00 0 NM_032121.5/ interpretable range CS1>95% MAN1B1 95.00 0 NM_016219.4/ interpretable range CS1>95% MGAT1 95.00 0 NM_001114618.1/ interpretable range CS1>95% MGAT2 95.00 0 NM_002408.3/ interpretable range CS1>95% MOGS 95.00 0 NM_006302.2/ interpretable range CS1>95% MPDU1 95.00 0 NM_004870.3/ interpretable range CS1>95% MPI 95.00 0 NM_002435.2/ interpretable range CS1>95% OST4 95.00 0 NM_001134693.1/ interpretable range CS1>95% PGM1 95.00 0 NM_002633.2/ interpretable range CS1>95% PGM2 95.00 0 NM_018290.3/ interpretable range CS1>95% PGM3 95.00 0 NM_001199917.1/ interpretable range CS1>95% PIGA 95.00 0 NM_002641.3/ interpretable range CS1>95% PIGL 95.00 0 NM_004278.3/ interpretable range CS1>95% PIGM 95.00 0 NM_145167.2/ interpretable range CS1>95% PIGN 95.00 0 NM_176787.4/ interpretable range CS1>95% PIGV 95.00 0 NM_017837.3/ interpretable range CS1>95% PMM2 95.00 0 NM_000303.2/ interpretable range CS1>95% POMGNT1 95.00 0 NM_017739.3/ interpretable range CS1>95% POMT1 95.00 0 NM_007171.3/ interpretable range CS1>95% POMT2 95.00 0 NM_013382.5/ interpretable range CS1>95% RFT1 95.00 0 NM_052859.3/ interpretable range CS1>95% RPN1 95.00 0 NM_002950.3/ interpretable range CS1>95% RPN2 95.00 0 NM_002951.4/ interpretable range CS1>95% SEC23B 95.00 0 NM_032985.5/ interpretable range CS1>95% SLC35A1 95.00 0 NM_006416.4/ interpretable range CS1>95% SLC35A3 95.00 0 NM_012243.2/ interpretable range CS1>95% SLC35C1 95.00 0 NM_018389.4/ interpretable range CS1>95% SLC35D1 95.00 0 NM_015139.2/ interpretable range CS1>95% SRD5A3 95.00 0 NM_024592.4/ interpretable range CS1>95% ST3GAL3 95.00 0 NM_174963.4/ interpretable range CS1>95% ST3GAL5 95.00 0 NM_003896.3/ interpretable range CS1>95% STT3A 95.00 0 NM_152713.4/ interpretable range CS1>95% STT3B 95.00 0 NM_178862.2/ interpretable range CS1>95% TMEM165 95.00 0 NM_018475.4/ interpretable range CS1>95% TUSC3 95.00 0 NM_006765.3/ interpretable range CS1>95% -
Constitutional Mismatch Repair Deficiency Syndrome (4 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments MLH1 100.00 1 MSH6 100.00 1 PMS2 100.00 1 MSH2 100.00 1 -
Constitutional Mismatch Repair Deficiency Syndrome / Bloom syndrome - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments MLH1 100.00 1 MSH6 100.00 1 PMS2 100.00 1 BLM 100.00 1 MSH2 100.00 1 -
Cowden (3 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments PTEN 100.00 1 SDHB 100.00 1 SDHD 100.00 1 - Developmental disorders: intellectual disability and multiple congenital anomalies (gene panel) - KUL
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Dyskeratosis Congenita (18 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACD 95.00 0 NM_001082486.1/ interpretable range CS1>95% CTC1 95.00 0 NM_025099.5/ interpretable range CS1>95% DKC1 95.00 0 NM_001363.4/ interpretable range CS1>95% GRHL2 95.00 0 NM_024915.3/ interpretable range CS1>95% LIG4 95.00 0 NM_002312.3/ interpretable range CS1>95% TNIP1 95.00 0 NM_138386.2/ interpretable range CS1>95% NHP2 95.00 0 NM_017838.3/ interpretable range CS1>95% NOP10 95.00 0 NM_018648.3/ interpretable range CS1>95% PARN 95.00 0 NM_002582.3/ interpretable range CS1>95% POT1 95.00 0 NM_015450.2/ interpretable range CS1>95% RTEL1 95.00 0 NM_032957.4/ interpretable range CS1>95% STN1 95.00 0 NM_024928.4/ interpretable range CS1>95% TERC 95.00 0 NR_001566.1/ interpretable range CS1>95% TERT 95.00 0 NM_198253.2/ interpretable range CS1>90% TINF2 95.00 0 NM_001099274.1/ interpretable range CS1>95% USB1 95.00 0 NM_024598.3/ interpretable range CS1>95% WRAP53 95.00 0 NM_018081.2/ interpretable range CS1>95% NAF1 95.00 0 NM_138386.3/ interpretable range CS1>95% -
Dystonia (68 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments PRKRA 93.20 0 NM_003690.4 ARX 96.10 0 NM_139058.2 CACNA1B 97.90 0 NM_000718.3 KMT2B 98.40 0 NM_014727.2 ADCY5 98.60 0 NM_183357.2 CIZ1 98.80 0 NM_012127.2 TH 99.10 0 NM_199292.2 SMPD1 99.30 0 NM_000543.4 CP 99.50 0 NM_000096.3 PRRT2 99.60 0 NM_145239.2 SUCLG1 99.60 0 NM_003849.3 PLA2G6 99.70 0 NM_003560.3 TBCD 99.70 0 NM_005993.4 ANO3 99.70 0 NM_031418.3 TOR1A 99.70 0 NM_000113.2 GCDH 99.90 0 NM_000159.3 NPC1 99.90 0 NM_000271.4 FA2H 99.90 0 NM_024306.4 TAF1 99.90 0 NM_004606.4 SPR 99.90 0 NM_003124.4 PTS 100.00 0 NM_000317.2 DCAF17 100.00 0 NM_025000.3 ATP7B 100.00 0 NM_000053.3 SLC39A14 100.00 0 NM_015359.5 C19ORF12 100.00 0 NM_001031726.3 RELN 100.00 0 NM_005045.3 ATM 100.00 0 NM_000051.3 CACNA1A 100.00 0 NM_002143.2 CYP27A1 100.00 0 NM_000784.3 KCTD17 100.00 0 NM_001282684.1 NKX2-1 100.00 0 NM_001079668.2 PANK2 100.00 0 NM_153638.3 VPS13A 100.00 0 NM_033305.2 COL6A3 100.00 0 NM_004369.3 ACTB 100.00 0 NM_001101.4 ARSA 100.00 0 NM_000487.5 ATP1A3 100.00 0 NM_152296.5 AUH 100.00 0 NM_001698.2 BCAP31 100.00 0 NM_001139441.1 COASY 100.00 0 NM_025233.6 DDC 100.00 0 NM_000790.3 DRD2 100.00 0 NM_000795.3 FTL 100.00 0 NM_000146.3 GCH1 100.00 0 NM_000161.2 GLB1 100.00 0 NM_000404.3 GNAL 100.00 0 NM_001142339.2 GNAO1 100.00 0 NM_020988.2 GNB1 100.00 0 NM_002074.4 HEXA 100.00 0 NM_000520.5 HEXB 100.00 0 NM_000521.3 HPRT1 100.00 0 NM_000194.2 KCNMA1 100.00 0 NM_002247.3 MECR 100.00 0 NM_016011.4 MR1 100.00 0 NM_001194999.1 NPC2 100.00 0 NM_006432.3 PNKD 100.00 0 NM_015488.4 SERAC1 100.00 0 NM_032861.3 SGCE 100.00 0 NM_003919.2 SLC18A2 100.00 0 NM_003054.4 SLC19A3 100.00 0 NM_025243.3 SLC2A1 100.00 0 NM_006516.2 SLC30A10 100.00 0 NM_018713.2 SLC6A3 100.00 0 NM_001044.4 THAP1 100.00 0 NM_018105.2 TIMM8A 100.00 0 NM_004085.3 TUBB4A 100.00 0 NM_006087.3 VAC14 100.00 0 NM_018052.4 WDR45 100.00 0 NM_007075.3 -
Endometrial Cancer (7 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments MLH1 100.00 1 MSH6 100.00 1 PMS2 100.00 1 PTEN 100.00 1 POLD1 100.00 1 POLE 100.00 1 MSH2 100.00 1 -
Epidermolysis bullosa and bladder diseases (60 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADAMTS2 95.00 0 NM_014244.5/ interpretable range CS1>95% ATP2A2 95.00 0 NM_001681.4/ interpretable range CS1>95% ATP2C1 95.00 0 NM_014382.5/ interpretable range CS1>95% CAST 95.00 0 NM_001042440.5/ interpretable range CS1>95% CD151 95.00 0 NM_004357.5/ interpretable range CS1>95% CDSN 95.00 0 NM_001264.5/ interpretable range CS1>95% CHST14 95.00 0 NM_130468.4/ interpretable range CS1>95% CHST8 95.00 0 NM_001127896.2/ interpretable range CS1>95% COL17A1 95.00 0 NM_000494.4/ interpretable range CS1>95% COL5A1 95.00 0 NM_000093.5/ interpretable range CS1>95% COL5A2 95.00 0 NM_000393.5/ interpretable range CS1>95% COL7A1 95.00 0 NM_000094.4/ interpretable range CS1>95% CSTA 95.00 0 NM_005213.4/ interpretable range CS1>95% CSTB 95.00 0 NM_000100.4/ interpretable range CS1>95% DSC3 95.00 0 NM_024423.4/ interpretable range CS1>95% DSG1 95.00 0 NM_001942.4/ interpretable range CS1>95% DSG2 95.00 0 NM_001943.5/ interpretable range CS1>95% DSG3 95.00 0 NM_001944.3/ interpretable range CS1>95% DSG4 95.00 0 NM_177986.5/ interpretable range CS1>95% DSP 95.00 0 NM_004415.4/ interpretable range CS1>95% DST 95.00 0 NM_001723.7/ interpretable range CS1>95% EXPH5 95.00 0 NM_015065.3/ interpretable range CS1>95% FERMT1 95.00 0 NM_017671.5/ interpretable range CS1>95% FLG2 95.00 0 NM_001014342.3/ interpretable range CS1>95% GJB2 95.00 0 NM_004004.6/ interpretable range CS1>95% GRIP1 95.00 0 NM_021150.4/ interpretable range CS1>95% IKBKG 95.00 0 NM_001099857.5/ interpretable range CS1>95% ITGA3 95.00 0 NM_002204.4/ interpretable range CS1>95% ITGA6 95.00 0 NM_000210.4/ interpretable range CS1>95% ITGB4 95.00 0 NM_001005731.3/ interpretable range CS1>95% JUP 95.00 0 NM_002230.4/ interpretable range CS1>95% KLHL24 95.00 0 NM_017644.3/ interpretable range CS1>95% KRT1 95.00 0 NM_006121.4/ interpretable range CS1>95% KRT10 95.00 0 NM_000421.5/ interpretable range CS1>95% KRT14 95.00 0 NM_000526.5/ interpretable range CS1>95% KRT16 95.00 0 NM_005557.4/ interpretable range CS1>95% KRT17 95.00 0 NM_000422.3/ interpretable range CS1>95% KRT2 95.00 0 NM_000423.3/ interpretable range CS1>95% KRT5 95.00 0 NM_000424.4/ interpretable range CS1>95% KRT6A 95.00 0 NM_005554.4/ interpretable range CS1>95% KRT6B 95.00 0 NM_005555.4/ interpretable range CS1>95% KRT6C 95.00 0 NM_173086.5/ interpretable range CS1>95% KRT9 95.00 0 NM_000226.4/ interpretable range CS1>95% LAMA3 95.00 0 NM_000227.6/ interpretable range CS1>95% LAMB3 95.00 0 NM_000228.3/ interpretable range CS1>95% LAMC2 95.00 0 NM_005562.3/ interpretable range CS1>95% MMP1 95.00 0 NM_002421.4/ interpretable range CS1>95% NID1 95.00 0 NM_002508.3/ interpretable range CS1>95% PKP1 95.00 0 NM_001005337.3/ interpretable range CS1>95% PLEC 95.00 0 NM_000445.5/ interpretable range CS1>95% PLOD3 95.00 0 NM_001084.5/ interpretable range CS1>95% SERPINB8 95.00 0 NM_198833.2/ interpretable range CS1>95% SLC39A4 95.00 0 NM_130849.4/ interpretable range CS1>95% SPINK5 95.00 0 NM_006846.4/ interpretable range CS1>95% TGM5 95.00 0 NM_201631.4/ interpretable range CS1>95% TP63 95.00 0 NM_003722.5/ interpretable range CS1>95% UROD 95.00 0 NM_000374.5/ interpretable range CS1>95% UROS 95.00 0 NM_000375.3/ interpretable range CS1>95% WNT10A 95.00 0 NM_025216.3/ interpretable range CS1>95% -
Familial Hypercholesterolemia panel (4 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments LDLR 100.00 1 APOB 100.00 1 APOE 100.00 1 PCSK9 100.00 1 -
Familial hemiplegic Migraine (8 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments CACNA1A 100.00 1 NM001127221.1/ Core gene ATP1A2 100.00 1 NM000702.3/ Core gene SCN1A 100.00 1 NM_001165963.2/ Core gene ATP1A3 100.00 1 NM152296.5/ gene that may be associated with an inherited form of Familia Hemiplegic Migraine (FHM) KCNK18 100.00 1 NM181840.1/ gene that may be associated with an inherited form of Familia Hemiplegic Migraine (FHM) PRRT2 100.00 1 NM145239.2/ gene that may be associated with an inherited form of Familia Hemiplegic Migraine (FHM) SLC1A3 100.00 1 NM004172.4/ gene that may be associated with an inherited form of Familia Hemiplegic Migraine (FHM) SLC2A1 100.00 1 NM_006516.2/ gene that may be associated with an inherited form of Familia Hemiplegic Migraine (FHM) -
Frontotemporal lobar degeneration / Amyotrophy Lateral Sclerosis (4 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments GRN 100.00 1 MAPT 100.00 1 FUS 100.00 1 TARDBP 100.00 1 -
Gastric cancer (10 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APC 100.00 1 CDH1 100.00 1 TP53 100.00 1 BRCA1 100.00 1 BRCA2 100.00 1 EPCAM 100.00 1 MLH1 100.00 1 MSH2 100.00 1 MSH6 100.00 1 PMS2 100.00 1 -
Genetic disorders of Calcium and Phosphate metabolism (31 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AIRE 95.00 0 NM_000383.4/ interpretable range CS1>95% ALPL 95.00 0 NM_000478.6/ interpretable range CS1>95% AP2S1 95.00 0 NM_004069.6/ interpretable range CS1>95% CASR 95.00 0 NM_000388.4/ interpretable range CS1>95% CDC73 95.00 0 NM_024529.5/ interpretable range CS1>95% CDKN1B 95.00 0 NM_004064.5/ interpretable range CS1>95% CLCN5 95.00 0 NM_000084.5/ interpretable range CS1>95% CYP27B1 95.00 0 NM_000785.4/ interpretable range CS1>95% CYP2R1 95.00 0 NM_024514.5/ interpretable range CS1>95% DMP1 95.00 0 NM_004407.4/ interpretable range CS1>95% ENPP1 95.00 0 NM_006208.3/ interpretable range CS1>95% FAM20C 95.00 0 NM_020223.4/ interpretable range CS1>95% FGF23 95.00 0 NM_020638.3/ interpretable range CS1>95% GATA3 95.00 0 NM_001002295.2/ interpretable range CS1>95% GCM2 95.00 0 NM_004752.4/ interpretable range CS1>95% GNA11 95.00 0 NM_002067.5/ interpretable range CS1>95% GNAS 95.00 0 NM_000516.7/ interpretable range CS1>95% HADHA 95.00 0 NM_000182.5/ interpretable range CS1>95% HADHB 95.00 0 NM_000183.3/ interpretable range CS1>95% MEN1 95.00 0 NM_130799.3/ interpretable range CS1>95% OCRL 95.00 0 NM_000276.4/ interpretable range CS1>95% PHEX 95.00 0 NM_000444.6/ interpretable range CS1>95% PTH 95.00 0 NM_000315.4/ interpretable range CS1>95% PTH1R 95.00 0 NM_000316.3/ interpretable range CS1>95% RET 95.00 0 NM_020975.6/ interpretable range CS1>95% SLC34A1 95.00 0 NM_003052.5/ interpretable range CS1>95% SLC34A3 95.00 0 NM_080877.3/ interpretable range CS1>95% SLC9A3R1 95.00 0 NM_004252.5/ interpretable range CS1>95% STX16 95.00 0 NM_001001433.3/ interpretable range CS1>95% TBCE 95.00 0 NM_003193.5/ interpretable range CS1>95% VDR 95.00 0 NM_001017535.2/ interpretable range CS1>95% -
Gorlin syndrome (2 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments PTCH1 100.00 1 SUFU 100.00 1 -
Hereditary Spastic Paraplegia (94 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCD1 95.00 0 interpretable range CS1>95% ADAR 95.00 0 interpretable range CS1>95% AFG3L2 95.00 0 interpretable range CS1>95% AIMP1 95.00 0 interpretable range CS1>95% ALDH18A1 95.00 0 interpretable range CS1>95% ALDH3A2 95.00 0 interpretable range CS1>95% ALS2 95.00 0 interpretable range CS1>95% AMPD2 95.00 0 interpretable range CS1>95% AP4B1 95.00 0 interpretable range CS1>95% AP4E1 95.00 0 interpretable range CS1>95% AP4M1 95.00 0 interpretable range CS1>95% AP4S1 95.00 0 interpretable range CS1>95% AP5Z1 95.00 0 interpretable range CS1>95% ARL6IP1 95.00 0 interpretable range CS1>95% ARSI 95.00 0 interpretable range CS1>95% ATL1 95.00 0 interpretable range CS1>95% ATP13A2 95.00 0 interpretable range CS1>95% B4GALNT1 95.00 0 interpretable range CS1>95% BICD2 95.00 0 interpretable range CS1>95% BSCL2 95.00 0 interpretable range CS1>95% MTRFR 95.00 0 interpretable range CS1>95% C19ORF12 95.00 0 interpretable range CS1>95% CAPN1 95.00 0 interpretable range CS1>95% CCT5 95.00 0 interpretable range CS1>95% CPT1C 95.00 0 interpretable range CS1>95% CYP27A1 95.00 0 interpretable range CS1>95% CYP2U1 95.00 0 interpretable range CS1>95% CYP7B1 95.00 0 interpretable range CS1>95% DARS1 95.00 0 interpretable range CS1>95% DDHD1 95.00 0 interpretable range CS1>95% DDHD2 95.00 0 interpretable range CS1>95% DSTYK 95.00 0 interpretable range CS1>95% ENTPD1 95.00 0 interpretable range CS1>95% ERLIN1 95.00 0 interpretable range CS1>95% ERLIN2 95.00 0 interpretable range CS1>95% FA2H 95.00 0 interpretable range CS1>95% FARS2 95.00 0 interpretable range CS1>95% FLRT1 95.00 0 interpretable range CS1>95% GBA2 95.00 0 interpretable range CS1>95% GCH1 95.00 0 interpretable range CS1>95% GJC2 95.00 0 interpretable range CS1>95% HACE1 95.00 0 interpretable range CS1>95% HSPD1 95.00 0 interpretable range CS1>95% IBA57 95.00 0 interpretable range CS1>95% KCNA2 95.00 0 interpretable range CS1>95% KDM5C 95.00 0 interpretable range CS1>95% KIDINS220 95.00 0 interpretable range CS1>95% KIF1A 95.00 0 interpretable range CS1>95% KIF1C 95.00 0 interpretable range CS1>95% KIF5A 95.00 0 interpretable range CS1>95% KLC2 95.00 0 interpretable range CS1>95% L1CAM 95.00 0 interpretable range CS1>95% ERCC2 95.00 0 interpretable range CS1>95% MARS1 95.00 0 interpretable range CS1>95% MARS2 95.00 0 interpretable range CS1>95% MTPAP 95.00 0 interpretable range CS1>95% NIPA1 95.00 0 interpretable range CS1>95% NKX6-2 95.00 0 interpretable range CS1>95% NT5C2 95.00 0 interpretable range CS1>95% OPA3 95.00 0 interpretable range CS1>95% PCYT2 95.00 0 interpretable range CS1>95% PGAP1 95.00 0 interpretable range CS1>95% PLP1 95.00 0 interpretable range CS1>95% PNPLA6 95.00 0 interpretable range CS1>95% POLR3A 95.00 0 interpretable range CS1>95% RAB3GAP2 95.00 0 interpretable range CS1>95% REEP1 95.00 0 interpretable range CS1>95% REEP2 95.00 0 interpretable range CS1>95% RNASEH2B 95.00 0 interpretable range CS1>95% RTN2 95.00 0 interpretable range CS1>95% SACS 95.00 0 interpretable range CS1>95% SERAC1 95.00 0 interpretable range CS1>95% SLC16A2 95.00 0 interpretable range CS1>95% SLC1A4 95.00 0 interpretable range CS1>95% SLC2A1 95.00 0 interpretable range CS1>95% SLC33A1 95.00 0 interpretable range CS1>95% SPART 95.00 0 interpretable range CS1>95% SPAST 95.00 0 interpretable range CS1>95% SPG11 95.00 0 interpretable range CS1>95% SPG21 95.00 0 interpretable range CS1>95% SPG7 95.00 0 interpretable range CS1>95% TECPR2 95.00 0 interpretable range CS1>95% TFG 95.00 0 interpretable range CS1>95% TUBB4A 95.00 0 interpretable range CS1>95% UBAP1 95.00 0 interpretable range CS1>95% UCHL1 95.00 0 interpretable range CS1>95% USP8 95.00 0 interpretable range CS1>95% VAMP1 95.00 0 interpretable range CS1>95% VPS37A 95.00 0 interpretable range CS1>95% WASHC5 95.00 0 interpretable range CS1>95% WDR48 95.00 0 interpretable range CS1>95% ZFR 95.00 0 interpretable range CS1>95% ZFYVE26 95.00 0 interpretable range CS1>95% ZFYVE27 95.00 0 interpretable range CS1>95% BRAF 95.00 0 interpretable range CS1>95% CBL 95.00 0 interpretable range CS1>95% HRAS 95.00 0 interpretable range CS1>95% KRAS 95.00 0 interpretable range CS1>95% MAP2K1 95.00 0 interpretable range CS1>95% MAP2K2 95.00 0 interpretable range CS1>95% NRAS 95.00 0 interpretable range CS1>95% PTPN11 95.00 0 interpretable range CS1>95% RAF1 95.00 0 interpretable range CS1>95% SHOC2 95.00 0 interpretable range CS1>95% SOS1 95.00 0 interpretable range CS1>95% RIT1 95.00 0 interpretable range CS1>95% -
Hyperparathyroidism (3 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments CDC73 100.00 1 RET 100.00 1 MEN1 100.00 1 -
Ichthyosis and erythroderma (95 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCA12 95.00 0 NM_173076.2/ interpretable range CS1>95% ABHD5 95.00 0 NM_016006.4/ interpretable range CS1>95% ADAM17 95.00 0 NM_003183.4/ interpretable range CS1>95% ALDH3A2 95.00 0 NM_000382.2/ interpretable range CS1>95% ALOX12B 95.00 0 NM_001139.2/ interpretable range CS1>95% ALOXE3 95.00 0 NM_021628.2/ interpretable range CS1>95% AP1B1 95.00 0 NM_001127.3/ interpretable range CS1>95% AP1S1 95.00 0 NM_001283.3/ interpretable range CS1>95% ASPRV1 95.00 0 NM_152792.2/ interpretable range CS1>95% ASS1 95.00 0 NM_000050.4/ interpretable range CS1>95% ATP7A 95.00 0 NM_000052.6/ interpretable range CS1>95% BCKDHA 95.00 0 NM_000709.3/ interpretable range CS1>95% BCKDHB 95.00 0 NM_183050.2/ interpretable range CS1>95% BTD 95.00 0 NM_000060.3/ interpretable range CS1>95% BTK 95.00 0 NM_000061.2/ interpretable range CS1>95% CAPN12 95.00 0 NM_144691.3/ interpretable range CS1>95% CARD14 95.00 0 NM_024110.4/ interpretable range CS1>95% CASP14 95.00 0 NM_012114.2/ interpretable range CS1>95% CAST 95.00 0 NM_001042440.4/ interpretable range CS1>95% CDSN 95.00 0 NM_001264.4/ interpretable range CS1>95% CERS3 95.00 0 NM_178842.3/ interpretable range CS1>95% CHST8 95.00 0 NM_001127896.1/ interpretable range CS1>95% CLDN1 95.00 0 NM_021101.4/ interpretable range CS1>95% CYP21A2 95.00 0 NM_001875.4/ interpretable range CS1>95% CSTA 95.00 0 NM_005213.3/ interpretable range CS1>95% CTSB 95.00 0 NM_001908.4/ interpretable range CS1>95% CYP4F22 95.00 0 NM_173483.3/ interpretable range CS1>95% DBT 95.00 0 NM_001918.3/ interpretable range CS1>95% DCLRE1C 95.00 0 NM_001033855.2/ interpretable range CS1>95% DLD 95.00 0 NM_000108.4/ interpretable range CS1>95% DSG1 95.00 0 NM_001942.2/ interpretable range CS1>95% GLB1 95.00 0 NM_006579.2/ interpretable range CS1>95% ELOVL1 95.00 0 NM_001256399.1/ interpretable range CS1>95% ELOVL4 95.00 0 NM_022726.3/ interpretable range CS1>95% ERCC2 95.00 0 NM_000400.3/ interpretable range CS1>95% ERCC3 95.00 0 NM_000122.1/ interpretable range CS1>95% FGFR1 95.00 0 NM_002016.1/ interpretable range CS1>95% FLG2 95.00 0 NM_001014342.2/ interpretable range CS1>95% GBA 95.00 0 NM_001005741.2/ interpretable range CS1>95% GJA1 95.00 0 NM_000165.4/ interpretable range CS1>95% GJB2 95.00 0 NM_004004.5/ interpretable range CS1>95% GJB3 95.00 0 NM_024009.2/ interpretable range CS1>95% GJB4 95.00 0 NM_153212.2/ interpretable range CS1>95% GJB6 95.00 0 NM_006783.4/ interpretable range CS1>95% GTF2E2 95.00 0 NM_002095.4/ interpretable range CS1>95% GTF2H5 95.00 0 NM_207118.2/ interpretable range CS1>95% HLCS 95.00 0 NM_000411.6/ interpretable range CS1>95% IL36RN 95.00 0 NM_012275.2/ interpretable range CS1>95% KDSR 95.00 0 NM_002035.2/ interpretable range CS1>95% KIT 95.00 0 NM_000222.2/ interpretable range CS1>95% KRT1 95.00 0 NM_006121.3/ interpretable range CS1>95% KRT10 95.00 0 NM_000421.3/ interpretable range CS1>95% KRT14 95.00 0 NM_000526.4/ interpretable range CS1>95% KRT16 95.00 0 NM_005557.3/ interpretable range CS1>95% KRT2 95.00 0 NM_000423.2/ interpretable range CS1>95% KRT5 95.00 0 NM_000424.3/ interpretable range CS1>95% KRT6C 95.00 0 NM_173086.4/ interpretable range CS1>95% KRT83 95.00 0 NM_002282.3/ interpretable range CS1>95% KRT9 95.00 0 NM_000226.3/ interpretable range CS1>95% LIPN 95.00 0 NM_001102469.1/ interpretable range CS1>95% LORICRIN 95.00 0 NM_000427.2/ interpretable range CS1>95% MBTPS2 95.00 0 NM_015884.3/ interpretable range CS1>95% MPLKIP 95.00 0 NM_138701.3/ interpretable range CS1>95% MMUT 95.00 0 NM_000255.3/ interpretable range CS1>95% NIPAL4 95.00 0 NM_001099287.1/ interpretable range CS1>95% NSDHL 95.00 0 NM_015922.2/ interpretable range CS1>95% PCCA 95.00 0 NM_000282.3/ interpretable range CS1>95% PCCB 95.00 0 NM_000532.4/ interpretable range CS1>95% PEX7 95.00 0 NM_000288.3/ interpretable range CS1>95% PHYH 95.00 0 NM_006214.3/ interpretable range CS1>95% PIGL 95.00 0 NM_004278.4/ interpretable range CS1>95% PNPLA1 95.00 0 NM_001145717.1/ interpretable range CS1>95% NT5C3A 95.00 0 NM_015932.5/ interpretable range CS1>95% RAG1 95.00 0 NM_000448.2/ interpretable range CS1>95% RAG2 95.00 0 NM_000536.3/ interpretable range CS1>95% RNF113A 95.00 0 NM_006978.2/ interpretable range CS1>95% SDR9C7 95.00 0 NM_148897.2/ interpretable range CS1>95% SERPINB8 95.00 0 NM_198833.1/ interpretable range CS1>95% SGPL1 95.00 0 NM_003901.3/ interpretable range CS1>95% SLC25A13 95.00 0 NM_014251.2/ interpretable range CS1>95% SLC27A4 95.00 0 NM_005094.3/ interpretable range CS1>95% SLC30A2 95.00 0 NM_001004434.1/ interpretable range CS1>95% SLC39A4 95.00 0 NM_130849.3/ interpretable range CS1>95% SNAP29 95.00 0 NM_004782.3/ interpretable range CS1>95% SPINK5 95.00 0 NM_006846.3/ interpretable range CS1>95% SREBF1 95.00 0 NM_004176.4/ interpretable range CS1>95% ST14 95.00 0 NM_021978.3/ interpretable range CS1>95% STS 95.00 0 NM_000351.4/ interpretable range CS1>95% SULT2B1 95.00 0 NM_177973.1/ interpretable range CS1>95% SUMF1 95.00 0 NM_182760.3/ interpretable range CS1>95% TBX1 95.00 0 NM_080647.1/ interpretable range CS1>95% TGM1 95.00 0 NM_000359.2/ interpretable range CS1>95% TGM5 95.00 0 NM_201631.3/ interpretable range CS1>95% VIPAS39 95.00 0 NM_022067.3/ interpretable range CS1>95% VPS33B 95.00 0 NM_018668.4/ interpretable range CS1>95% -
Kidney cancer (Renal Cell Carcinoma (RCC)) (10 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments BAP1 100.00 1 FH 100.00 1 FLCN 100.00 1 MET 100.00 1 SDHB 100.00 1 SDHD 100.00 1 SDHC 100.00 1 SDHA 100.00 1 SDHAF2 100.00 1 VHL 100.00 1 -
Kidney cancer (Transitional Cell Carcinoma (TCC)) (14 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments BAP1 100.00 1 FH 100.00 1 FLCN 100.00 1 MET 100.00 1 SDHB 100.00 1 SDHD 100.00 1 SDHC 100.00 1 SDHA 100.00 1 SDHAF2 100.00 1 VHL 100.00 1 MLH1 100.00 1 MSH2 100.00 1 MSH6 100.00 1 PMS2 100.00 1 -
Medulloblastoma (3 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments SUFU 100.00 1 TP53 100.00 1 PTCH1 100.00 1 -
Melanoma and Familial Atypical Multiple Mole Melanoma Syndrome (8 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments CDKN2A 100.00 1 CDK4 100.00 1 BAP1 100.00 1 POT1 100.00 1 ACD 100.00 1 TERF2IP 100.00 1 TERT 0.00 0 only promoter MITF 100.00 1 -
Meningioma (3 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments NF2 100.00 1 SMARCB1 100.00 1 SUFU 100.00 1 -
Nephropathies, hereditary (218 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACE 95.00 0 NM_000789.3/ interpretable range CS1>95% ACTA2 95.00 0 NM_001613.3/ interpretable range CS1>95% ACTG2 95.00 0 NM_001615.3/ interpretable range CS1>95% ACTN4 95.00 0 NM_004924.5/ interpretable range CS1>95% AGXT 95.00 0 NM_000030.2/ interpretable range CS1>95% AGTR1 95.00 0 NM_031850.3/ interpretable range CS1>95% ALG8 95.00 0 NM_024079.4/ interpretable range CS1>95% ALG9 95.00 0 NM_024740.2/ interpretable range CS1>95% ABCD1 95.00 0 NM_030943.3/ interpretable range CS1>95% ANKS6 95.00 0 NM_173551.4/ interpretable range CS1>95% ANLN 95.00 0 NM_018685.4/ interpretable range CS1>95% ANOS1 95.00 0 NM_000216.3/ interpretable range CS1>95% AP2S1 95.00 0 NM_004069.4/ interpretable range CS1>95% APOA1 95.00 0 NM_000039.2/ interpretable range CS1>95% APOA2 95.00 0 NM_001643.1/ interpretable range CS1>95% APOC2 95.00 0 NM_000483.4/ interpretable range CS1>95% APOE 95.00 0 NM_000041.3/ interpretable range CS1>95% APRT 95.00 0 NM_000485.2/ interpretable range CS1>95% AQP2 95.00 0 NM_000486.5/ interpretable range CS1>95% ARHGDIA 95.00 0 NM_001185077.2/ interpretable range CS1>95% ATP6V0A4 95.00 0 NM_020632.2/ interpretable range CS1>95% ATP6V1B1 95.00 0 NM_001692.3/ interpretable range CS1>95% NLRP3 95.00 0 NM_000490.4/ interpretable range CS1>95% AVPR2 95.00 0 NM_000054.4/ interpretable range CS1>95% BMP4 95.00 0 NM_001202.5/ interpretable range CS1>95% BNC2 95.00 0 NM_017637.5/ interpretable range CS1>95% BSND 95.00 0 NM_057176.2/ interpretable range CS1>95% C3 95.00 0 NM_000064.3/ interpretable range CS1>95% CA2 95.00 0 NM_000067.2/ interpretable range CS1>95% CACNA1H 95.00 0 NM_021098.2/ interpretable range CS1>95% CASR 95.00 0 NM_000388.3/ interpretable range CS1>95% CD2AP 95.00 0 NM_012120.2/ interpretable range CS1>95% CD46 95.00 0 NM_002389.4/ interpretable range CS1>95% CDC73 95.00 0 NM_024529.4/ interpretable range CS1>95% CDK20 95.00 0 NM_001039803.2/ interpretable range CS1>95% CEP83 95.00 0 NM_016122.2/ interpretable range CS1>95% CFB 95.00 0 NM_001710.5/ interpretable range CS1>95% CFH 95.00 0 NM_000186.3/ interpretable range CS1>95% CFHR1 95.00 0 NM_002113.2/ interpretable range CS1>95% CFHR3 95.00 0 NM_021023.5/ interpretable range CS1>95% CFHR5 95.00 0 NM_030787.3/ interpretable range CS1>95% CFI 95.00 0 NM_000204.4/ interpretable range CS1>95% CHRM3 95.00 0 NM_000740.3/ interpretable range CS1>95% CHRNA3 95.00 0 NM_000743.4/ interpretable range CS1>95% CLCN2 95.00 0 NM_004366.5/ interpretable range CS1>95% CLCN5 95.00 0 NM_000084.4/ interpretable range CS1>95% CLCNKA 95.00 0 NM_004070.3/ interpretable range CS1>95% CLCNKB 95.00 0 NM_000085.4/ interpretable range CS1>95% CLDN10 95.00 0 NM_006984.4/ interpretable range CS1>95% CLDN16 95.00 0 NM_006580.3/ interpretable range CS1>95% CLDN19 95.00 0 NM_148960.2/ interpretable range CS1>95% CNNM2 95.00 0 NM_017649.4/ interpretable range CS1>95% COL4A1 95.00 0 NM_001845.5/ interpretable range CS1>95% COL4A3 95.00 0 NM_000091.4/ interpretable range CS1>95% COL4A4 95.00 0 NM_000092.4/ interpretable range CS1>95% COL4A5 95.00 0 NM_000495.4/ interpretable range CS1>95% COQ2 95.00 0 NM_015697.8/ interpretable range CS1>95% COQ6 95.00 0 NM_182476.2/ interpretable range CS1>95% COQ8B 95.00 0 NM_024876.3/ interpretable range CS1>95% CRB2 95.00 0 NM_173689.6/ interpretable range CS1>95% CTNS 95.00 0 NM_004937.2/ interpretable range CS1>95% CUBN 95.00 0 NM_001081.3/ interpretable range CS1>95% CUL3 95.00 0 NM_003590.4/ interpretable range CS1>95% CYP11B1 95.00 0 NM_000497.3/ interpretable range CS1>95% CYP11B2 95.00 0 NM_000498.3/ interpretable range CS1>95% CYP17A1 95.00 0 NM_000102.3/ interpretable range CS1>95% CYP24A1 95.00 0 NM_000782.4/ interpretable range CS1>95% DGKE 95.00 0 NM_003647.2/ interpretable range CS1>95% DLEC1 95.00 0 NM_182643.2/ interpretable range CS1>95% DNAJB11 95.00 0 NM_016306.5/ interpretable range CS1>95% DSTYK 95.00 0 NM_015375.2/ interpretable range CS1>95% DZIP1L 95.00 0 NM_173543.2/ interpretable range CS1>95% EGF 95.00 0 NM_001963.5/ interpretable range CS1>95% EHHADH 95.00 0 NM_001966.3/ interpretable range CS1>95% EMP2 95.00 0 NM_001424.5/ interpretable range CS1>95% EYA1 95.00 0 NM_000503.5/ interpretable range CS1>95% FAM20A 95.00 0 NM_017565.3/ interpretable range CS1>95% FAN1 95.00 0 NM_014967.4/ interpretable range CS1>95% FAT1 95.00 0 NM_005245.3/ interpretable range CS1>95% FGA 95.00 0 NM_021871.3/ interpretable range CS1>95% FGF20 95.00 0 NM_019851.2/ interpretable range CS1>95% FGF23 95.00 0 NM_020638.2/ interpretable range CS1>95% FN1 95.00 0 NM_212482.2/ interpretable range CS1>95% FOXC1 95.00 0 NM_001453.2/ interpretable range CS1>95% FOXC2 95.00 0 NM_005251.2/ interpretable range CS1>95% FOXI1 95.00 0 NM_012188.4/ interpretable range CS1>95% FRAS1 95.00 0 NM_025074.6/ interpretable range CS1>95% FREM1 95.00 0 NM_144966.5/ interpretable range CS1>95% FREM2 95.00 0 NM_207361.5/ interpretable range CS1>95% FXYD2 95.00 0 NM_001680.4/ interpretable range CS1>95% GANAB 95.00 0 NM_198335.3/ interpretable range CS1>95% GATA3 95.00 0 NM_001002295.1/ interpretable range CS1>95% GATM 95.00 0 NM_001482.2/ interpretable range CS1>95% GDNF 95.00 0 NM_000514.3/ interpretable range CS1>95% GLA 95.00 0 NM_000169.2/ interpretable range CS1>95% GLIS2 95.00 0 NM_032575.2/ interpretable range CS1>95% GNA11 95.00 0 NM_002067.4/ interpretable range CS1>95% GREB1L 95.00 0 NM_001142966.2/ interpretable range CS1>95% GRHPR 95.00 0 NM_012203.1/ interpretable range CS1>95% GRIP1 95.00 0 NM_021150.3/ interpretable range CS1>95% GSN 95.00 0 NM_000177.4/ interpretable range CS1>95% HNF1A 95.00 0 NM_000545.6/ interpretable range CS1>95% HNF1B 95.00 0 NM_000458.3/ interpretable range CS1>95% HNF4A 95.00 0 NM_175914.4/ interpretable range CS1>95% HOGA1 95.00 0 NM_138413.3/ interpretable range CS1>95% HOXA13 95.00 0 NM_000522.4/ interpretable range CS1>95% HPRT1 95.00 0 NM_000194.2/ interpretable range CS1>95% HPSE2 95.00 0 NM_021828.4/ interpretable range CS1>95% HSD11B2 95.00 0 NM_000196.3/ interpretable range CS1>95% IFT81 95.00 0 NM_014055.3/ interpretable range CS1>95% INF2 95.00 0 NM_022489.3/ interpretable range CS1>95% INVS 95.00 0 NM_014425.4/ interpretable range CS1>95% ITGA8 95.00 0 NM_003638.2/ interpretable range CS1>95% ITSN1 95.00 0 NM_003024.2/ interpretable range CS1>95% ITSN2 95.00 0 NM_147152.2/ interpretable range CS1>95% JAG1 95.00 0 NM_000214.2/ interpretable range CS1>95% KANK2 95.00 0 NM_001136191.2/ interpretable range CS1>95% KCNA1 95.00 0 NM_000217.2/ interpretable range CS1>95% KCNJ1 95.00 0 NM_000220.4/ interpretable range CS1>95% KCNJ10 95.00 0 NM_002241.4/ interpretable range CS1>95% KCNJ5 95.00 0 NM_000890.4/ interpretable range CS1>95% KL 95.00 0 NM_004795.3/ interpretable range CS1>95% KLHL3 95.00 0 NM_017415.2/ interpretable range CS1>95% LAMB2 95.00 0 NM_002292.3/ interpretable range CS1>95% LCAT 95.00 0 NM_000229.1/ interpretable range CS1>95% LDHD 95.00 0 NM_153486.3/ interpretable range CS1>95% LHX1 95.00 0 NM_005568.4/ interpretable range CS1>95% LMX1B 95.00 0 NM_002316.3/ interpretable range CS1>95% LRIG2 95.00 0 NM_014813.2/ interpretable range CS1>95% LRP2 95.00 0 NM_004525.2/ interpretable range CS1>95% LYZ 95.00 0 NM_000239.2/ interpretable range CS1>95% MAGED2 95.00 0 NM_177433.2/ interpretable range CS1>95% MAGI2 95.00 0 NM_012301.3/ interpretable range CS1>95% MAPKBP1 95.00 0 NM_001128608.1/ interpretable range CS1>95% MMACHC 95.00 0 NM_015506.2/ interpretable range CS1>95% MOCOS 95.00 0 NM_017947.3/ interpretable range CS1>95% MUC1 95.00 0 NM_002456.5/ interpretable range CS1>95% MYH11 95.00 0 NM_002474.2/ interpretable range CS1>95% MYH9 95.00 0 NM_002473.5/ interpretable range CS1>95% MYO1E 95.00 0 NM_004998.3/ interpretable range CS1>95% MYOCD 95.00 0 NM_001146312.2/ interpretable range CS1>95% NEK9 95.00 0 NM_178170.2/ interpretable range CS1>95% NOTCH2 95.00 0 NM_024408.3/ interpretable range CS1>95% NPHP1 95.00 0 NM_000272.3/ interpretable range CS1>95% NPHP3 95.00 0 NM_153240.4/ interpretable range CS1>95% NPHP4 95.00 0 NM_015102.4/ interpretable range CS1>95% NPHS1 95.00 0 NM_004646.3/ interpretable range CS1>95% NPHS2 95.00 0 NM_014625.3/ interpretable range CS1>95% NR3C1 95.00 0 NM_001018077.1/ interpretable range CS1>95% NR3C2 95.00 0 NM_000901.4/ interpretable range CS1>95% NUP107 95.00 0 NM_020401.3/ interpretable range CS1>95% NUP133 95.00 0 NM_018230.2/ interpretable range CS1>95% NUP160 95.00 0 NM_015231.2/ interpretable range CS1>95% NUP85 95.00 0 NM_024844.4/ interpretable range CS1>95% NUP93 95.00 0 NM_014669.4/ interpretable range CS1>95% OCRL 95.00 0 NM_000276.3/ interpretable range CS1>95% OFD1 95.00 0 NM_003611.2/ interpretable range CS1>95% PAX2 95.00 0 NM_003987.4/ interpretable range CS1>95% PBX1 95.00 0 NM_002585.3/ interpretable range CS1>95% PCBD1 95.00 0 NM_000281.3/ interpretable range CS1>95% PHEX 95.00 0 NM_000444.5/ interpretable range CS1>95% PKD1 95.00 0 NM_001009944.2/ interpretable range CS1>95% PKD2 95.00 0 NM_000297.3/ interpretable range CS1>95% PKHD1 95.00 0 NM_138694.3/ interpretable range CS1>95% PLCE1 95.00 0 NM_016341.3/ interpretable range CS1>95% PODXL 95.00 0 NM_005397.3/ interpretable range CS1>95% PRPS1 95.00 0 NM_002764.3/ interpretable range CS1>95% REN 95.00 0 NM_000537.3/ interpretable range CS1>95% RET 95.00 0 NM_020975.5/ interpretable range CS1>95% ROBO2 95.00 0 NM_002942.4/ interpretable range CS1>95% SALL1 95.00 0 NM_002968.2/ interpretable range CS1>95% SARS2 95.00 0 NM_017827.3/ interpretable range CS1>95% SCARB2 95.00 0 NM_005506.3/ interpretable range CS1>95% SCNN1A 95.00 0 NM_001038.5/ interpretable range CS1>95% SCNN1B 95.00 0 NM_000336.2/ interpretable range CS1>95% SCNN1G 95.00 0 NM_001039.3/ interpretable range CS1>95% SDCCAG8 95.00 0 NM_006642.4/ interpretable range CS1>95% SEC61A1 95.00 0 NM_013336.3/ interpretable range CS1>95% SGPL1 95.00 0 NM_003901.3/ interpretable range CS1>95% SIX1 95.00 0 NM_005982.3/ interpretable range CS1>95% SIX5 95.00 0 NM_175875.4/ interpretable range CS1>95% SLC12A1 95.00 0 NM_000338.2/ interpretable range CS1>95% SLC12A3 95.00 0 NM_000339.2/ interpretable range CS1>95% SLC22A12 95.00 0 NM_144585.3/ interpretable range CS1>95% SLC2A2 95.00 0 NM_000340.1/ interpretable range CS1>95% SLC2A9 95.00 0 NM_020041.2/ interpretable range CS1>95% SLC34A1 95.00 0 NM_003052.4/ interpretable range CS1>95% SLC34A3 95.00 0 NM_080877.2/ interpretable range CS1>95% SLC3A1 95.00 0 NM_000341.3/ interpretable range CS1>95% SLC4A1 95.00 0 NM_000342.3/ interpretable range CS1>95% SLC4A4 95.00 0 NM_003759.3/ interpretable range CS1>95% SLC5A2 95.00 0 NM_003041.3/ interpretable range CS1>95% SLC7A9 95.00 0 NM_014270.4/ interpretable range CS1>95% SMARCAL1 95.00 0 NM_014140.3/ interpretable range CS1>95% TBC1D8B 95.00 0 NM_017752.2/ interpretable range CS1>95% TBX18 95.00 0 NM_001080508.2/ interpretable range CS1>95% THBD 95.00 0 NM_000361.2/ interpretable range CS1>95% TNS2 95.00 0 NM_015319.2/ interpretable range CS1>95% TRAF3IP1 95.00 0 NM_015650.3/ interpretable range CS1>95% TRAP1 95.00 0 NM_016292.2/ interpretable range CS1>95% TRPC6 95.00 0 NM_004621.5/ interpretable range CS1>95% TRPM6 95.00 0 NM_017662.4/ interpretable range CS1>95% TSC1 95.00 0 NM_000368.4/ interpretable range CS1>95% TSC2 95.00 0 NM_000548.4/ interpretable range CS1>95% TTC21B 95.00 0 NM_024753.4/ interpretable range CS1>95% TTR 95.00 0 NM_000371.3/ interpretable range CS1>95% UMOD 95.00 0 NM_003361.3/ interpretable range CS1>95% VHL 95.00 0 NM_000551.3/ interpretable range CS1>95% WDR19 95.00 0 NM_025132.3/ interpretable range CS1>95% WDR72 95.00 0 NM_182758.3/ interpretable range CS1>95% WFS1 95.00 0 NM_006005.3/ interpretable range CS1>95% WNK1 95.00 0 NM_018979.3/ interpretable range CS1>95% WNK4 95.00 0 NM_032387.4/ interpretable range CS1>95% WNT4 95.00 0 NM_030761.4/ interpretable range CS1>95% WT1 95.00 0 NM_024426.5/ interpretable range CS1>95% XDH 95.00 0 NM_000379.3/ interpretable range CS1>95% XPNPEP3 95.00 0 NM_022098.3/ interpretable range CS1>95% -
Neuromuscular disorders (232 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments NEB 88.70 0 NM_001271208.1 SELENON 92.30 0 NM_020451.2 TSEN54 97.70 0 NM_207346.2 DOK7 97.90 0 NM_173660.4 ORAI1 97.90 0 NM_032790.3 CRPPA 98.60 0 NM_001101426.3 PGAM2 98.80 0 NM_000290.3 AGRN 99.00 0 NM_198576.3 HSPB1 99.00 0 NM_001540.4 POMT2 99.00 0 NM_013382.5 CACNA1H 99.10 0 NM_021098.2 RYR1 99.10 0 NM_000540.2 SPTBN4 99.30 0 NM_020971.2 TNNT1 99.50 0 NM_003283.5 HSPG2 99.50 0 NM_005529.6 CAPN3 99.60 0 NM_000070.2 GMPPB 99.60 0 NM_013334.3 ACADVL 99.60 0 NM_000018.3 LAMA5 99.60 0 NM_005560.4 B3GALNT2 99.70 0 NM_152490.4 SCN4A 99.70 0 NM_000334.4 ISCU 99.70 0 NM_213595.3 MATR3 99.70 0 NM_199189.2 SLC16A1 99.80 0 NM_003051.3 COL6A1 99.80 0 NM_001848.2 CHD8 99.80 0 NM_001170629.1 RAPSN 99.80 0 NM_005055.4 CACNA1A 99.80 0 NM_001127221.1 MYH7B 99.80 0 NM_024729.3 DCST2 99.80 0 NM_144622.2 CHRNE 99.80 0 NM_000080.3 SGCG 99.90 0 NM_000231.2 DYSF 99.90 0 NM_003494.3 MYL2 99.90 0 NM_000432.3 CHRNA1 99.90 0 NM_000079.3 ECEL1 99.90 0 NM_004826.3 PNPLA2 99.90 0 NM_020376.3 FXR1 99.90 0 NM_005087.3 TTN 99.90 0 NM_133378.4 PNPLA8 99.90 0 NM_015723.4 ATP2A1 99.90 0 NM_173201.3 COL6A2 99.90 0 NM_001849.3 MYBPC3 99.90 0 NM_000256.3 VCP 99.90 0 NM_007126.4 TRDN 99.90 0 NM_006073.3 GYS1 99.90 0 NM_002103.4 ALG13 99.90 0 NM_001099922.2 MYO18B 99.90 0 NM_032608.6 TK2 99.90 0 NM_004614.4 PHKB 99.90 0 NM_000293.2 SYT2 99.90 0 NM_177402.4 LDHA 99.90 0 NM_005566.3 LMNA 99.90 0 NM_170707.3 CFL2 99.90 0 NM_021914.7 TIA1 100.00 0 NM_022173.3 MYF6 100.00 0 NM_002469.2 KCNJ18 100.00 0 NM_001194958.2 DPM1 100.00 0 NM_003859.2 HNRNPDL 100.00 0 NM_031372.3 TPM2 100.00 0 NM_003289.3 CACNA1S 100.00 0 NM_000069.2 FLNC 100.00 0 NM_001458.4 CHRNB1 100.00 0 NM_000747.2 CCDC78 100.00 0 NM_001031737.2 ETFA 100.00 0 NM_000126.3 DNAJB6 100.00 0 NM_058246.3 DMPK 100.00 0 NM_001081563.2 CORIN 100.00 0 NM_002334.3 HACD1 100.00 0 NM_014241.3 EMD 100.00 0 NM_000117.2 TRIP4 100.00 0 NM_016213.4 MYL1 100.00 0 NM_079420.2 ETFDH 100.00 0 NM_004453.3 FKRP 100.00 0 NM_024301.4 DNA2 100.00 0 NM_001080449.2 PLEC 100.00 0 NM_000445.4 PABPN1 100.00 0 NM_004643.3 SPEG 100.00 0 NM_005876.4 ITGA7 100.00 0 NM_002206.2 POMT1 100.00 0 NM_007171.3 GFPT1 100.00 0 NM_002056.3 SYNE1 100.00 0 NM_033071.3 LPIN1 100.00 0 NM_145693.3 ENO3 100.00 0 NM_053013.3 GOLGA2 100.00 0 NM_004486.4 CHKB 100.00 0 NM_005198.4 AMPD1 100.00 0 NM_000036.2 ACTA1 100.00 0 NM_001100.3 ACVR1 100.00 0 NM_001105.4 HADHB 100.00 0 NM_000183.2 KCNA1 100.00 0 NM_000217.2 ANO5 100.00 0 NM_213599.2 INPP5K 100.00 0 NM_016532.3 SMCHD1 100.00 0 NM_015295.2 ADSS1 100.00 0 NM_199165.2 TRIM63 100.00 0 NM_032588.3 COL13A1 100.00 0 NM_001130103.1 TOP3A 100.00 0 NM_004618.4 COL12A1 100.00 0 NM_004370.5 MYPN 100.00 0 NM_032578.3 SYNE2 100.00 0 NM_182914.2 ACTN2 100.00 0 NM_001103.3 PREPL 100.00 0 NM_006036.4 MYH3 100.00 0 NM_002470.3 SGCB 100.00 0 NM_000232.4 PHKA1 100.00 0 NM_002637.3 CLCN1 100.00 0 NM_000083.2 KBTBD13 100.00 0 NM_001101362.2 CHAT 100.00 0 NM_020549.4 AGL 100.00 0 NM_000642.2 MUSK 100.00 0 NM_005592.3 CASQ1 100.00 0 NM_001231.4 ACADS 100.00 0 NM_000017.3 PYGM 100.00 0 NM_005609.3 GAA 100.00 0 NM_000152.4 TRAPPC11 100.00 0 NM_021942.5 MYO9A 100.00 0 NM_006901.3 COL6A3 100.00 0 NM_004369.3 DMD 100.00 0 NM_004006.2 MYH7 100.00 0 NM_000257.3 MYBPC1 100.00 0 NM_002465.3 RYR3 100.00 0 NM_001036.4 ABHD5 100.00 0 NM_016006.5 ACAD9 100.00 0 NM_014049.4 ACADL 100.00 0 NM_001608.3 ACADM 100.00 0 NM_000016.5 ALDOA 100.00 0 NM_000034.3 ALG14 100.00 0 NM_144988.3 ALG2 100.00 0 NM_033087.3 ATP1A2 100.00 0 NM_000702.3 B4GAT1 100.00 0 NM_006876.2 BAG3 100.00 0 NM_004281.3 BIN1 100.00 0 NM_139343.2 BVES 100.00 0 NM_007073.4 CAV3 100.00 0 NM_033337.2 CAVIN1 100.00 0 NM_012232.5 CHRND 100.00 0 NM_000751.2 CHRNG 100.00 0 NM_005199.4 CNTN1 100.00 0 NM_001843.3 COLQ 100.00 0 NM_005677.3 CPT2 100.00 0 NM_000098.2 CRYAB 100.00 0 NM_001885.2 DAG1 100.00 0 NM_004393.5 DES 100.00 0 NM_001927.3 DNM2 100.00 0 NM_001005360.2 DOLK 100.00 0 NM_014908.3 DPAGT1 100.00 0 NM_001382.3 DPM2 100.00 0 NM_003863.3 DPM3 100.00 0 NM_153741.1 ETFB 100.00 0 NM_001985.2 EXOSC3 100.00 0 NM_016042.3 CFH 100.00 0 NM_001449.4 FKBP14 100.00 0 NM_017946.3 FKTN 100.00 0 NM_001079802.1 FLAD1 100.00 0 NM_025207.4 GBE1 100.00 0 NM_000158.3 GGPS1 100.00 0 NM_001037277.1 GNE 100.00 0 NM_001128227.2 GYG1 100.00 0 NM_004130.3 HADH 100.00 0 NM_005327.4 HADHA 100.00 0 NM_000182.4 HINT1 100.00 0 NM_005340.6 HNRNPA1 100.00 0 NM_031157.3 HNRNPA2B1 100.00 0 NM_031243.2 HRAS 100.00 0 NM_005343.3 HSPB8 100.00 0 NM_014365.2 KCNE3 100.00 0 NM_005472.4 KCNJ2 100.00 0 NM_000891.2 KLHL40 100.00 0 NM_152393.3 KLHL41 100.00 0 NM_006063.2 KLHL9 100.00 0 NM_018847.3 KY 100.00 0 NM_178554.5 LAMA2 100.00 0 NM_000426.3 LAMB2 100.00 0 NM_002292.3 LAMP2 100.00 0 NM_002294.2 LARGE1 100.00 0 NM_004737.6 LDB3 100.00 0 NM_001080116.1 LIMS2 100.00 0 NM_001136037.2 LMOD3 100.00 0 NM_198271.4 MAP3K20 100.00 0 NM_016653.2 MB 100.00 0 NM_005368.2 MEGF10 100.00 0 NM_032446.2 MSTN 100.00 0 NM_005259.2 MTM1 100.00 0 NM_000252.2 MTMR14 100.00 0 NM_022485.4 MYH2 100.00 0 NM_017534.5 MYH8 100.00 0 NM_002472.2 MYMK 100.00 0 NM_001080483.2 MYOT 100.00 0 NM_006790.2 MED12 100.00 0 NM_015560.2 P4HA1 100.00 0 NM_001017962.2 PAX7 100.00 0 NM_002584.2 PDHA1 100.00 0 NM_000284.3 PFKM 100.00 0 NM_000289.5 PGK1 100.00 0 NM_000291.3 PGM1 100.00 0 NM_002633.2 POGLUT1 100.00 0 NM_152305.2 POLG 100.00 0 NM_002693.2 POLG2 100.00 0 NM_007215.3 POMGNT1 100.00 0 NM_017739.3 POMGNT2 100.00 0 NM_032806.5 POMK 100.00 0 NM_032237.4 POPDC3 100.00 0 NM_022361.4 PRKAG2 100.00 0 NM_016203.3 PYROXD1 100.00 0 NM_024854.4 RBCK1 100.00 0 NM_031229.3 RXYLT1 100.00 0 NM_014254.2 SBDS 100.00 0 NM_016038.3 SGCA 100.00 0 NM_000023.3 SGCD 100.00 0 NM_000337.5 SIL1 100.00 0 NM_022464.4 SLC18A3 100.00 0 NM_003055.2 SLC22A5 100.00 0 NM_003060.3 SLC25A20 100.00 0 NM_000387.5 SLC5A7 100.00 0 NM_021815.4 SNAP25 100.00 0 NM_130811.3 SQSTM1 100.00 0 NM_003900.4 STAC3 100.00 0 NM_145064.2 STIM1 100.00 0 NM_003156.3 WWTR1 100.00 0 NM_000116.4 TCAP 100.00 0 NM_003673.3 TMEM126B 100.00 0 NM_018480.5 TMEM43 100.00 0 NM_024334.2 TNNI2 100.00 0 NM_003282.3 TNNT3 100.00 0 NM_006757.3 TNPO3 100.00 0 NM_012470.3 TOR1AIP1 100.00 0 NM_001267578.1 TPM3 100.00 0 NM_152263.3 TRIM32 100.00 0 NM_012210.3 UNC45B 100.00 0 NM_173167.3 VAMP1 100.00 0 NM_014231.4 VMA21 100.00 0 NM_001017980.3 -
Pancreatic Cancer (9 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments CDKN2A 100.00 1 MLH1 100.00 1 MSH2 100.00 1 MSH6 100.00 1 BRCA1 100.00 1 BRCA2 100.00 1 PALB2 100.00 1 TP53 100.00 1 STK11 100.00 1 -
Paraganglioma-pheochromocytoma (7 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments SDHA 100.00 1 SDHB 100.00 1 SDHC 100.00 1 SDHD 100.00 1 SDHAF2 100.00 1 RET 100.00 1 VHL 100.00 1 -
Parkinson (18 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments PRKN 100.00 0 Core gene / NM_004562.2 LRRK2 100.00 0 Core gene / NM_198578.3 PARK7 100.00 0 Core gene / NM_007262.4 SNCA 100.00 0 Core gene / NM_000345.3 PINK1 100.00 0 Core gene / NM_032409.2 VPS35 100.00 0 Core gene / NM_018206.5 ATP13A2 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_022089.3 ATP1A3 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_152296.5 ATP6AP2 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_005765.2 CHCHD2 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_016139.3 DNAJC13 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_015268.3 DNAJC6 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_001256864.1 FBXO7 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_012179.3 PLA2G6 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_003560.3 RAB39B 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_171998.3 SYNJ1 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_003895.3 GBA 100.00 0 risk factor genes / NM_001005741.2 GCH1 100.00 0 risk factor genes / NM_000161.2 -
Primary Arterial Hypertension (18 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACVRL1 100.00 0 NM_000020.2 AQP1 100.00 0 NM_198098.3 ATP13A3 100.00 0 NM_024524.3 BMPR1B 100.00 0 NM_001203.2 BMPR2 100.00 0 NM_001204.6 CAV1 100.00 0 NM_001753.4 EIF2AK4 100.00 0 NM_001013703.3 ENG 100.00 0 NM_000118.3 EPHB4 100.00 0 NM_004444.4 GDF2 100.00 0 NM_016204.3 KCNA5 100.00 0 NM_002234.3 KCNK3 100.00 0 NM_002246.2 KDR 100.00 0 NM_002253.3 GARS1 100.00 0 NM_005900.2 SMAD4 100.00 0 NM_005359.5 SMAD9 100.00 0 NM_001127217.2 SOX17 100.00 0 NM_022454.3 TBX4 100.00 0 NM_018488.3 -
Primary Ciliary Dyskinesia (59 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ODAD2 100.00 0 NM_018076.5 CCDC103 100.00 0 NM_213607.3 ODAD1 100.00 0 NM_144577.4 ODAD3 100.00 0 NM_145045.5 CCDC39 100.00 0 NM_181426.2 CCDC40 100.00 0 NM_017950.4 CCDC65 100.00 0 NM_033124.5 CCNO 100.00 0 NM_021147.5 CFAP251 100.00 0 NM_144668.6 CFAP298 100.00 0 NM_021254.4 CFAP300 100.00 0 NM_032930.3 CFAP45 100.00 0 NM_012337.3 CFAP53 100.00 0 NM_145020.5 CFAP57 100.00 0 NM_152498.3 CFAP74 100.00 0 NM_001304360.2 DNAAF1 100.00 0 NM_178452.6 DNAAF2 100.00 0 NM_018139.2 DNAAF3 100.00 0 NM_001256714.1 DNAAF4 100.00 0 NM_130810.4 DNAAF5 100.00 0 NM_017802.4 DNAAF6 100.00 0 NM_001169154.2 DNAH11 100.00 0 NM_001277115.2 DNAH17 100.00 0 NM_173628.4 DNAH2 100.00 0 NM_020877.5 DNAH5 100.00 0 NM_001369.3 DNAH6 100.00 0 NM_001370.2 DNAH8 100.00 0 NM_001206927.2 DNAH9 100.00 0 NM_031427.4 DNAI1 100.00 0 NM_012144.4 DNAI2 100.00 0 NM_023036.5 DNAJB13 100.00 0 NM_153614.4 DRC1 100.00 0 NM_145038.5 ENKUR 100.00 0 NM_145010.4 FOXJ1 100.00 0 NM_001454.4 GAS2L2 100.00 0 NM_139285.4 GAS8 100.00 0 NM_001481.3 HYDIN 100.00 0 NM_001270974.2 LRRC56 100.00 0 NM_198075.4 DNAAF11 100.00 0 NM_012472.6 MCIDAS 100.00 0 NM_001190787.3 MNS1 100.00 0 NM_018365.4 NEK10 100.00 0 NM_199347.4 NME5 100.00 0 NM_003551.3 NME8 100.00 0 NM_016616.5 OFD1 100.00 0 NM_003611.3 RPGR 100.00 0 NM_000328.3 RSPH1 100.00 0 NM_080860.4 RSPH3 100.00 0 NM_031924.8 RSPH4A 100.00 0 NM_001010892.3 RSPH9 100.00 0 NM_152732.5 SPAG1 100.00 0 NM_172218.3 SPEF2 100.00 0 NM_024867.4 STK36 100.00 0 NM_015690.5 TEKT1 100.00 0 NM_053285.2 TP73 100.00 0 NM_005427.4 TTC12 100.00 0 NM_017868.4 ODAD4 100.00 0 NM_031421.5 ZMYND10 100.00 0 NM_015896.4 -
Primary immune deficiencies (444 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACD 95.00 0 NM_001082486.1/ interpretable range CS1>95% ACP5 95.00 0 NM_001111035.2/ interpretable range CS1>95% ACTB 95.00 0 NM_001101.4/ interpretable range CS1>95% ADA 95.00 0 NM_000022.3/ interpretable range CS1>95% ADA2 95.00 1 NM_001282225.1/ interpretable range CS1>95% ADAM17 95.00 0 NM_003183.6/ interpretable range CS1>95% ADAR 95.00 0 NM_001111.5/ interpretable range CS1>95% AICDA 95.00 0 NM_020661.3/ interpretable range CS1>95% AIRE 95.00 0 NM_000383.3/ interpretable range CS1>95% AK2 95.00 0 NM_001625.3/ interpretable range CS1>95% ALPI 95.00 0 NM_001631.4/ interpretable range CS1>95% AP1S3 95.00 0 NM_001039569.1/ interpretable range CS1>95% AP3B1 95.00 0 NM_003664.4/ interpretable range CS1>95% AP3D1 95.00 0 NM_001261826.3/ interpretable range CS1>95% APOL1 95.00 0 NM_003661.3/ interpretable range CS1>95% ARPC1B 95.00 0 NM_005720.4/ interpretable range CS1>95% ATAD3A 95.00 0 NM_001170535.2/ interpretable range CS1>95% ATG4A 95.00 0 NM_052936.4/ interpretable range CS1>95% ATM 95.00 0 NM_000051.3/ interpretable range CS1>95% ATP6AP1 95.00 0 NM_001183.5/ interpretable range CS1>95% ATP6V0A2 95.00 0 NM_012463.3/ interpretable range CS1>95% B2M 95.00 0 NM_004048.2/ interpretable range CS1>95% BACH2 95.00 0 NM_021813.3/ interpretable range CS1>95% BCL10 95.00 0 NM_003921.5/ interpretable range CS1>95% BCL11B 95.00 0 NM_138576.3/ interpretable range CS1>95% BLM 95.00 0 NM_000057.3/ interpretable range CS1>95% BLNK 95.00 0 NM_013314.3/ interpretable range CS1>95% BPIFA1 95.00 0 NM_016583.3/ interpretable range CS1>95% BTK 95.00 0 NM_000061.2/ interpretable range CS1>95% C1QA 95.00 0 NM_015991.3/ interpretable range CS1>95% C1QB 95.00 0 NM_000491.4/ interpretable range CS1>95% C1QC 95.00 0 NM_172369.4/ interpretable range CS1>95% C1R 95.00 0 NM_001733.6/ interpretable range CS1>95% C1S 95.00 0 NM_201442.3/ interpretable range CS1>95% C2 95.00 0 NM_000063.5/ interpretable range CS1>95% C2orf69 95.00 0 NM_153689.5/ interpretable range CS1>95% C3 95.00 0 NM_000064.3/ interpretable range CS1>95% C5 95.00 0 NM_001735.2/ interpretable range CS1>95% C6 95.00 0 NM_000065.3/ interpretable range CS1>95% C7 95.00 0 NM_000587.3/ interpretable range CS1>95% C8A 95.00 0 NM_000562.2/ interpretable range CS1>95% C8B 95.00 0 NM_000066.3/ interpretable range CS1>95% C9 95.00 0 NM_001737.4/ interpretable range CS1>95% CARD11 95.00 0 NM_032415.5/ interpretable range CS1>95% CARD14 95.00 0 NM_024110.4/ interpretable range CS1>95% CARD9 95.00 0 NM_052813.4/ interpretable range CS1>95% CARMIL2 95.00 0 NM_001013838.2/ interpretable range CS1>95% CASP10 95.00 0 NM_032977.3/ interpretable range CS1>95% CASP8 95.00 0 NM_001228.4/ interpretable range CS1>95% CCBE1 95.00 0 NM_133459.4/ interpretable range CS1>95% CD19 95.00 0 NM_001770.5/ interpretable range CS1>95% CD247 95.00 0 NM_198053.2/ interpretable range CS1>95% CD27 95.00 0 NM_001242.4/ interpretable range CS1>95% CD28 95.00 0 NM_006139.3/ interpretable range CS1>95% CD3D 95.00 0 NM_000732.4/ interpretable range CS1>95% CD3E 95.00 0 NM_000733.3/ interpretable range CS1>95% CD3G 95.00 0 NM_000073.2/ interpretable range CS1>95% CD4 95.00 0 NM_000616.4/ interpretable range CS1>95% CD40 95.00 0 NM_001250.5/ interpretable range CS1>95% CD40LG 95.00 0 NM_000074.2/ interpretable range CS1>95% CD46 95.00 0 NM_002389.4/ interpretable range CS1>95% CD48 95.00 0 NM_001778.3/ interpretable range CS1>95% CD55 95.00 0 NM_000574.4/ interpretable range CS1>95% CD59 95.00 0 NM_203330.2/ interpretable range CS1>95% CD70 95.00 0 NM_001252.4/ interpretable range CS1>95% CD79A 95.00 0 NM_001783.3/ interpretable range CS1>95% CD79B 95.00 0 NM_000626.3/ interpretable range CS1>95% CD81 95.00 0 NM_004356.3/ interpretable range CS1>95% CD8A 95.00 0 NM_001768.6/ interpretable range CS1>95% CDC42 95.00 0 NM_001791.3/ interpretable range CS1>95% CDCA7 95.00 0 NM_031942.4/ interpretable range CS1>95% CDH17 95.00 0 NM_004063.3/ interpretable range CS1>95% CEBPE 95.00 0 NM_001805.3/ interpretable range CS1>95% CFB 95.00 0 NM_001710.5/ interpretable range CS1>95% CFD 95.00 0 NM_001928.3/ interpretable range CS1>95% CFH 95.00 0 NM_000186.3/ interpretable range CS1>95% CFHR1 95.00 0 NM_002113.2/ interpretable range CS1>95% CFHR2 95.00 0 NM_005666.3/ interpretable range CS1>95% CFHR3 95.00 0 NM_021023.5/ interpretable range CS1>95% CFHR4 95.00 0 NM_001201550.2/ interpretable range CS1>95% CFHR5 95.00 0 NM_030787.3/ interpretable range CS1>95% CFI 95.00 0 NM_000204.4/ interpretable range CS1>95% CFP 95.00 0 NM_002621.2/ interpretable range CS1>95% CFTR 95.00 0 NM_000492.3/ interpretable range CS1>95% CHD7 95.00 0 NM_017780.3/ interpretable range CS1>95% CHUK 95.00 0 NM_001278.4/ interpretable range CS1>95% CIB1 95.00 0 NM_006384.3/ interpretable range CS1>95% CIITA 95.00 0 NM_000246.3/ interpretable range CS1>95% CLCN7 95.00 0 NM_001287.5/ interpretable range CS1>95% CLPB 95.00 0 NM_030813.5/ interpretable range CS1>95% COPA 95.00 0 NM_004371.3/ interpretable range CS1>95% COPG1 95.00 0 NM_016128.3/ interpretable range CS1>95% CORO1A 95.00 0 NM_007074.3/ interpretable range CS1>95% CR2 95.00 0 NM_001006658.2/ interpretable range CS1>95% CRACR2A 95.00 0 NM_001144958.1/ interpretable range CS1>95% CSF2RB 95.00 0 NM_000395.2/ interpretable range CS1>95% CSF3R 95.00 0 NM_000760.3/ interpretable range CS1>95% CTC1 95.00 0 NM_025099.5/ interpretable range CS1>95% CTLA4 95.00 0 NM_005214.4/ interpretable range CS1>95% CTNNBL1 95.00 0 NM_030877.4/ interpretable range CS1>95% CTPS1 95.00 0 NM_001905.3/ interpretable range CS1>95% CTSC 95.00 0 NM_001814.5/ interpretable range CS1>95% CXCR2 95.00 0 NM_001557.3/ interpretable range CS1>95% CXCR4 95.00 0 NM_003467.2/ interpretable range CS1>95% CYBA 95.00 0 NM_000101.3/ interpretable range CS1>95% CYBB 95.00 1 NM_000397.3/ interpretable range CS1>95% CYBC1 95.00 0 NM_001033046.3/ interpretable range CS1>95% DBR1 95.00 0 NM_016216.3/ interpretable range CS1>95% DCLRE1B 95.00 0 NM_022836.3/ interpretable range CS1>95% DCLRE1C 95.00 0 NM_001033855.2/ interpretable range CS1>95% DEF6 95.00 0 NM_022047.3/ interpretable range CS1>95% DGAT1 95.00 0 NM_012079.5/ interpretable range CS1>95% DIAPH1 95.00 0 NM_005219.4/ interpretable range CS1>95% DKC1 95.00 0 NM_001363.4/ interpretable range CS1>95% DNAJC21 95.00 0 NM_001012339.3/ interpretable range CS1>95% DNASE1 95.00 0 NM_005223.3/ interpretable range CS1>95% DNASE1L3 95.00 0 NM_004944.3/ interpretable range CS1>95% DNASE2 95.00 0 NM_001375.2/ interpretable range CS1>95% DNMT3B 95.00 0 NM_006892.3/ interpretable range CS1>95% DOCK2 95.00 0 NM_004946.2/ interpretable range CS1>95% DOCK8 95.00 0 NM_203447.3/ interpretable range CS1>95% DSG1 95.00 0 NM_001942.3/ interpretable range CS1>95% DTNBP1 95.00 0 NM_032122.4/ interpretable range CS1>95% EFL1 95.00 0 NM_024580.5/ interpretable range CS1>95% ELANE 95.00 0 NM_001972.3/ interpretable range CS1>95% ELF4 95.00 0 NM_001421.3/ interpretable range CS1>95% EPG5 95.00 0 NM_020964.2/ interpretable range CS1>95% ERBIN 95.00 0 NM_001253697.1/ interpretable range CS1>95% EXTL3 95.00 0 NM_001440.3/ interpretable range CS1>95% FADD 95.00 0 NM_003824.3/ interpretable range CS1>95% FAS 95.00 0 NM_000043.5/ interpretable range CS1>95% FASLG 95.00 0 NM_000639.2/ interpretable range CS1>95% FAT4 95.00 0 NM_024582.4/ interpretable range CS1>95% FCGR3A 95.00 0 NM_000569.7/ interpretable range CS1>95% FCHO1 95.00 0 NM_015122.2/ interpretable range CS1>95% FCN3 95.00 0 NM_003665.3/ interpretable range CS1>95% FERMT1 95.00 0 NM_017671.4/ interpretable range CS1>95% FERMT3 95.00 0 NM_031471.5/ interpretable range CS1>95% FNIP1 95.00 0 NM_133372.2/ interpretable range CS1>95% FOXN1 95.00 0 NM_003593.2/ interpretable range CS1>95% FOXP3 95.00 0 NM_014009.3/ interpretable range CS1>95% G6PC3 95.00 0 NM_138387.3/ interpretable range CS1>95% G6PD 95.00 0 NM_001042351.2/ interpretable range CS1>95% GATA2 95.00 1 NM_032638.4/ interpretable range CS1>95% GFI1 95.00 0 NM_005263.4/ interpretable range CS1>95% GIMAP5 95.00 0 NM_018384.4/ interpretable range CS1>95% GIMAP6 95.00 0 NM_001244072.1/ interpretable range CS1>95% GINS1 95.00 0 NM_021067.4/ interpretable range CS1>95% GUCY2C 95.00 0 NM_004963.3/ interpretable range CS1>95% HAVCR2 95.00 0 NM_032782.4/ interpretable range CS1>95% HAX1 95.00 0 NM_006118.3/ interpretable range CS1>95% HCK 95.00 0 NM_002110.3/ interpretable range CS1>95% HELLS 95.00 0 NM_018063.4/ interpretable range CS1>95% HTRA2 95.00 0 NM_013247.4/ interpretable range CS1>95% HYOU1 95.00 0 NM_006389.4/ interpretable range CS1>95% ICOS 95.00 0 NM_012092.3/ interpretable range CS1>95% IFIH1 95.00 0 NM_022168.3/ interpretable range CS1>95% IFNAR1 95.00 0 NM_000629.2/ interpretable range CS1>95% IFNAR2 95.00 0 NM_207585.2/ interpretable range CS1>95% IFNG 95.00 0 NM_000619.2/ interpretable range CS1>95% IFNGR1 95.00 0 NM_000416.2/ interpretable range CS1>95% IFNGR2 95.00 0 NM_005534.3/ interpretable range CS1>95% IGLL1 95.00 0 NM_020070.3/ interpretable range CS1>95% IKBKB 95.00 0 NM_001556.2/ interpretable range CS1>95% IKBKG 95.00 0 NM_001099857.2/ interpretable range CS1>95% IKZF1 95.00 0 NM_006060.6/ interpretable range CS1>95% IKZF2 95.00 0 NM_001079526.1/ interpretable range CS1>95% IKZF3 95.00 0 NM_012481.4/ interpretable range CS1>95% IL10 95.00 0 NM_000572.2/ interpretable range CS1>95% IL10RA 95.00 0 NM_001558.3/ interpretable range CS1>95% IL10RB 95.00 0 NM_000628.4/ interpretable range CS1>95% IL12B 95.00 0 NM_002187.2/ interpretable range CS1>95% IL12RB1 95.00 0 NM_005535.2/ interpretable range CS1>95% IL12RB2 95.00 0 NM_001559.2/ interpretable range CS1>95% IL17F 95.00 0 NM_052872.3/ interpretable range CS1>95% IL17RA 95.00 0 NM_014339.6/ interpretable range CS1>95% IL17RC 95.00 0 NM_153461.3/ interpretable range CS1>95% IL18BP 95.00 0 NM_173042.2/ interpretable range CS1>95% IL1RN 95.00 0 NM_173841.2/ interpretable range CS1>95% IL21 95.00 0 NM_021803.3/ interpretable range CS1>95% IL21R 95.00 0 NM_021798.3/ interpretable range CS1>95% IL23R 95.00 0 NM_144701.2/ interpretable range CS1>95% IL2RA 95.00 0 NM_000417.2/ interpretable range CS1>95% IL2RB 95.00 0 NM_000878.4/ interpretable range CS1>95% IL2RG 95.00 0 NM_000206.2/ interpretable range CS1>95% IL36RN 95.00 0 NM_012275.2/ interpretable range CS1>95% IL37 95.00 0 NM_014439.3/ interpretable range CS1>95% IL6R 95.00 0 NM_000565.3/ interpretable range CS1>95% IL6ST 95.00 0 NM_002184.3/ interpretable range CS1>95% IL7 95.00 0 NM_000880.3/ interpretable range CS1>95% IL7R 95.00 0 NM_002185.4/ interpretable range CS1>95% INO80 95.00 0 NM_017553.2/ interpretable range CS1>95% IRAK1 95.00 0 NM_001569.3/ interpretable range CS1>95% IRAK4 95.00 0 NM_016123.3/ interpretable range CS1>95% IRF2BP2 95.00 0 NM_182972.2/ interpretable range CS1>95% IRF3 95.00 0 NM_001571.5/ interpretable range CS1>95% IRF4 95.00 0 NM_002460.3/ interpretable range CS1>95% IRF7 95.00 0 NM_004031.2/ interpretable range CS1>95% IRF8 95.00 0 NM_002163.2/ interpretable range CS1>95% IRF9 95.00 0 NM_006084.4/ interpretable range CS1>95% ISG15 95.00 0 NM_005101.3/ interpretable range CS1>95% ITCH 95.00 0 NM_031483.6/ interpretable range CS1>95% ITGB2 95.00 0 NM_000211.4/ interpretable range CS1>95% ITK 95.00 0 NM_005546.3/ interpretable range CS1>95% ITPKB 95.00 0 NM_002221.3/ interpretable range CS1>95% ITPKC 95.00 0 NM_025194.2/ interpretable range CS1>95% ITPR3 95.00 0 NM_002224.3/ interpretable range CS1>95% JAGN1 95.00 0 NM_032492.3/ interpretable range CS1>95% JAK1 95.00 0 NM_002227.3/ interpretable range CS1>95% JAK3 95.00 0 NM_000215.3/ interpretable range CS1>95% KARS1 95.00 0 NM_001130089.1/ interpretable range CS1>95% KMT2A 95.00 0 NM_001197104.1/ interpretable range CS1>95% KMT2D 95.00 0 NM_003482.3/ interpretable range CS1>95% KPNA2 95.00 0 NM_001320611.1/ interpretable range CS1>95% KRAS 95.00 0 NM_004985.4/ interpretable range CS1>95% LACC1 95.00 0 NM_001128303.2/ interpretable range CS1>95% LAMTOR2 95.00 0 NM_014017.3/ interpretable range CS1>95% LAT 95.00 0 NM_001014987.1/ interpretable range CS1>95% LCK 95.00 0 NM_001042771.2/ interpretable range CS1>95% LCP2 95.00 0 NM_005565.4/ interpretable range CS1>95% LIG1 95.00 0 NM_000234.2/ interpretable range CS1>95% LIG4 95.00 0 NM_002312.3/ interpretable range CS1>95% LPIN2 95.00 0 NM_014646.2/ interpretable range CS1>95% LRBA 95.00 0 NM_006726.4/ interpretable range CS1>95% LRRC32 95.00 0 NM_005512.2/ interpretable range CS1>95% LRRC8A 95.00 0 NM_019594.3/ interpretable range CS1>95% LSM11 95.00 0 NM_173491.3/ interpretable range CS1>95% LYST 95.00 0 NM_000081.3/ interpretable range CS1>95% MAGT1 95.00 0 NM_032121.5/ interpretable range CS1>95% MALT1 95.00 0 NM_006785.3/ interpretable range CS1>95% MAN2B2 95.00 0 NM_015274.2/ interpretable range CS1>95% MAP1LC3B2 95.00 0 NM_001085481.2/ interpretable range CS1>95% MAP3K14 95.00 0 NM_003954.4/ interpretable range CS1>95% MAPK8 95.00 0 NM_139049.3/ interpretable range CS1>95% MASP2 95.00 0 NM_006610.3/ interpretable range CS1>95% MBL2 95.00 0 NM_000242.2/ interpretable range CS1>95% MCM10 95.00 0 NM_182751.2/ interpretable range CS1>95% MCM4 95.00 0 NM_005914.3/ interpretable range CS1>95% MEFV 95.00 0 NM_000243.2/ interpretable range CS1>95% MOGS 95.00 0 NM_020831.4/ interpretable range CS1>95% MPO 95.00 0 NM_006302.2/ interpretable range CS1>95% MRTFA 95.00 0 NM_000250.1/ interpretable range CS1>95% MS4A1 95.00 0 NM_152866.2/ interpretable range CS1>95% MSN 95.00 0 NM_002444.2/ interpretable range CS1>95% MTHFD1 95.00 0 NM_005956.3/ interpretable range CS1>95% MVK 95.00 0 NM_000431.3/ interpretable range CS1>95% MYD88 95.00 0 NM_002468.4/ interpretable range CS1>95% MYO5B 95.00 0 NM_001080467.2/ interpretable range CS1>95% MYSM1 95.00 0 NM_001085487.2/ interpretable range CS1>95% NBAS 95.00 0 NM_015909.3/ interpretable range CS1>95% NCF1 95.00 0 NM_000265.5/ interpretable range CS1>95% NCF2 95.00 0 NM_000433.3/ interpretable range CS1>95% NCF4 95.00 0 NM_013416.3/ interpretable range CS1>95% NCKAP1 95.00 0 NM_205842.2/ interpretable range CS1>95% NCKAP1L 95.00 0 NM_005337.4/ interpretable range CS1>95% NCSTN 95.00 0 NM_015331.2/ interpretable range CS1>95% NFAT5 95.00 0 NM_138714.3/ interpretable range CS1>95% NFE2L2 95.00 0 NM_006164.4/ interpretable range CS1>95% NFKB1 95.00 0 NM_003998.3/ interpretable range CS1>95% NFKB2 95.00 0 NM_001077494.3/ interpretable range CS1>95% NFKBIA 95.00 0 NM_020529.2/ interpretable range CS1>95% NHEJ1 95.00 0 NM_024782.2/ interpretable range CS1>95% NHP2 95.00 0 NM_017838.3/ interpretable range CS1>95% NLRC4 95.00 0 NM_021209.4/ interpretable range CS1>95% NLRP1 95.00 0 NM_033004.3/ interpretable range CS1>95% NLRP12 95.00 0 NM_144687.3/ interpretable range CS1>95% NLRP3 95.00 0 NM_004895.4/ interpretable range CS1>95% NOD2 95.00 0 NM_022162.2/ interpretable range CS1>95% NOP10 95.00 0 NM_018648.3/ interpretable range CS1>95% NOS2 95.00 0 NM_000625.4/ interpretable range CS1>95% NRAS 95.00 0 NM_002524.4/ interpretable range CS1>95% NSMCE3 95.00 0 NM_138704.3/ interpretable range CS1>95% OAS1 95.00 0 NM_032790.3/ interpretable range CS1>95% ORAI1 95.00 0 NM_014028.3/ interpretable range CS1>95% OSTM1 95.00 0 NM_138348.5/ interpretable range CS1>95% OTULIN 95.00 0 NM_002582.3/ interpretable range CS1>95% PARN 95.00 0 NM_006192.4/ interpretable range CS1>95% PAX1 95.00 0 NM_005018.2/ interpretable range CS1>95% PDCD1 95.00 0 NM_000285.3/ interpretable range CS1>95% PEPD 95.00 0 NM_001199917.1/ interpretable range CS1>95% PGM3 95.00 0 NM_058004.3/ interpretable range CS1>95% PI4KA 95.00 0 NM_005026.4/ interpretable range CS1>95% PIK3CD 95.00 0 NM_002649.3/ interpretable range CS1>95% PIK3CG 95.00 0 NM_181523.2/ interpretable range CS1>95% PIK3R1 95.00 0 NM_002661.4/ interpretable range CS1>95% PLCG2 95.00 0 NM_014798.2/ interpretable range CS1>95% PLEKHM1 95.00 0 NM_000535.6/ interpretable range CS1>95% PMS2 95.00 0 NM_016937.3/ interpretable range CS1>95% PNP 95.00 0 NM_002691.3/ interpretable range CS1>95% POLA1 95.00 0 NM_006230.3/ interpretable range CS1>95% POLD1 95.00 0 NM_006231.3/ interpretable range CS1>95% POLD2 95.00 0 NM_002692.3/ interpretable range CS1>95% POLE 95.00 0 NM_007055.3/ interpretable range CS1>95% POLE2 95.00 0 NM_001303456.1/ interpretable range CS1>95% POLR3A 95.00 0 NM_001282526.1/ interpretable range CS1>95% POLR3C 95.00 0 NM_015932.5/ interpretable range CS1>95% POLR3E 95.00 0 NM_006235.2/ interpretable range CS1>95% POLR3F 95.00 0 NM_001083116.2/ interpretable range CS1>95% POMP 95.00 0 NM_015932.6/ interpretable range CS1>95% POU2AF1 95.00 0 NM_006254.3/ interpretable range CS1>95% PRF1 95.00 0 NM_006904.6/ interpretable range CS1>95% PRKCD 95.00 0 NM_172341.3/ interpretable range CS1>95% PRKDC 95.00 0 NM_002788.3/ interpretable range CS1>95% PSENEN 95.00 0 NM_002801.3/ interpretable range CS1>95% PSMA3 95.00 0 NM_002796.2/ interpretable range CS1>95% PSMB10 95.00 0 NM_148919.3/ interpretable range CS1>95% PSMB4 95.00 0 NM_002800.4/ interpretable range CS1>95% PSMB8 95.00 0 NM_147163.1/ interpretable range CS1>95% PSMB9 95.00 0 NM_003978.4/ interpretable range CS1>95% PSMG2 95.00 0 NM_000314.6/ interpretable range CS1>95% PSTPIP1 95.00 0 NM_002828.3/ interpretable range CS1>95% PTEN 95.00 0 NM_002838.4/ interpretable range CS1>95% PTPN2 95.00 0 NM_004580.4/ interpretable range CS1>95% PTPRC 95.00 0 NM_002872.4/ interpretable range CS1>95% RAB27A 95.00 0 NM_000448.2/ interpretable range CS1>95% RAC2 95.00 0 NM_000536.3/ interpretable range CS1>95% RAG1 95.00 0 NM_006267.4/ interpretable range CS1>95% RAG2 95.00 0 NM_005739.3/ interpretable range CS1>95% RANBP2 95.00 0 NM_031229.3/ interpretable range CS1>95% RASGRP1 95.00 0 NM_172071.3/ interpretable range CS1>95% RBCK1 95.00 0 NM_004260.3/ interpretable range CS1>95% RC3H1 95.00 0 NM_002908.3/ interpretable range CS1>95% RECQL4 95.00 0 NM_021975.3/ interpretable range CS1>95% REL 95.00 0 NM_006509.3/ interpretable range CS1>95% RELA 95.00 0 NM_000449.3/ interpretable range CS1>95% RELB 95.00 0 NM_003721.3/ interpretable range CS1>95% RFX5 95.00 0 NM_000538.3/ interpretable range CS1>95% RFXANK 95.00 0 NM_001665.3/ interpretable range CS1>95% RFXAP 95.00 0 NM_004310.4/ interpretable range CS1>95% RHOG 95.00 0 NM_003804.5/ interpretable range CS1>95% RHOH 95.00 0 NM_006397.2/ interpretable range CS1>95% RIGI 95.00 0 NM_014314.4/ interpretable range CS1>95% RIPK1 95.00 0 NM_024570.3/ interpretable range CS1>95% RNASEH2A 95.00 0 NM_032193.3/ interpretable range CS1>95% RNASEH2B 95.00 0 NM_152617.3/ interpretable range CS1>95% RNASEH2C 95.00 0 NM_017999.4/ interpretable range CS1>95% RNF168 95.00 0 NM_005060.3/ interpretable range CS1>95% RNF31 95.00 0 NM_002945.4/ interpretable range CS1>95% RORC 95.00 0 NM_002295.5/ interpretable range CS1>95% RPA1 95.00 0 NM_002945.5/ interpretable range CS1>95% RPSA 95.00 0 NM_032957.4/ interpretable range CS1>95% RTEL1 95.00 0 NM_017654.3/ interpretable range CS1>95% SAMD9 95.00 0 NM_152703.4/ interpretable range CS1>95% SAMD9L 95.00 0 NM_015474.3/ interpretable range CS1>95% SAMHD1 95.00 0 NM_018990.3/ interpretable range CS1>95% SASH3 95.00 0 NM_016038.3/ interpretable range CS1>95% SBDS 95.00 0 NM_013336.3/ interpretable range CS1>95% SEC61A1 95.00 0 NM_006378.3/ interpretable range CS1>95% SEMA4D 95.00 0 NM_000062.2/ interpretable range CS1>95% SERPING1 95.00 1 NM_002351.4/ interpretable range CS1>95% SH2D1A 95.00 0 NM_031892.2/ interpretable range CS1>95% SH3KBP1 95.00 0 NM_006929.4/ interpretable range CS1>95% SKIC2 95.00 0 NM_006929.5/ interpretable range CS1>95% SKIC3 95.00 0 NM_014639.4/ interpretable range CS1>95% SLC11A1 95.00 0 NM_018344.5/ interpretable range CS1>95% SLC29A3 95.00 0 NM_018389.4/ interpretable range CS1>95% SLC35C1 95.00 0 NM_001164277.1/ interpretable range CS1>95% SLC37A4 95.00 0 NM_006979.2/ interpretable range CS1>95% SLC39A7 95.00 0 NM_080669.5/ interpretable range CS1>95% SLC46A1 95.00 0 NM_001126106.2/ interpretable range CS1>95% SLC7A7 95.00 0 NM_014140.3/ interpretable range CS1>95% SMARCAL1 95.00 0 NM_001098426.1/ interpretable range CS1>95% SMARCD2 95.00 0 NR_002967.1/ interpretable range CS1>95% SNORA31 95.00 0 NM_001199835.1/ interpretable range CS1>95% SNX10 95.00 0 NM_003745.1/ interpretable range CS1>95% SOCS1 95.00 0 NM_004509.3/ interpretable range CS1>95% SP110 95.00 0 NM_004509.5/ interpretable range CS1>95% SPI1 95.00 0 NM_001080547.1/ interpretable range CS1>95% SPINK5 95.00 0 NM_006846.3/ interpretable range CS1>95% SPPL2A 95.00 0 NM_032802.3/ interpretable range CS1>95% SRP54 95.00 0 NM_003136.3/ interpretable range CS1>95% STAT1 95.00 0 NM_007315.3/ interpretable range CS1>95% STAT2 95.00 0 NM_005419.3/ interpretable range CS1>95% STAT3 95.00 0 NM_139276.2/ interpretable range CS1>95% STAT4 95.00 0 NM_003151.3/ interpretable range CS1>95% STAT5B 95.00 0 NM_012448.3/ interpretable range CS1>95% STIM1 95.00 0 NM_003156.3/ interpretable range CS1>95% STING1 95.00 0 NM_006282.4/ interpretable range CS1>95% STK4 95.00 0 NM_024928.4/ interpretable range CS1>95% STN1 95.00 0 NM_003764.3/ interpretable range CS1>95% STX11 95.00 0 NM_006949.3/ interpretable range CS1>95% STXBP2 95.00 0 NM_007269.3/ interpretable range CS1>95% STXBP3 95.00 0 NM_003177.6/ interpretable range CS1>95% SYK 95.00 0 NM_000593.5/ interpretable range CS1>95% TAFAZZIN 95.00 0 NM_000116.5/ interpretable range CS1>95% TAP1 95.00 0 NM_001290043.1/ interpretable range CS1>95% TAP2 95.00 0 NM_003190.4/ interpretable range CS1>95% TAPBP 95.00 0 NM_000116.4/ interpretable range CS1>95% TBK1 95.00 0 NM_013254.3/ interpretable range CS1>95% TBX1 95.00 0 NM_080647.1/ interpretable range CS1>95% TBX21 95.00 0 NM_013351.1/ interpretable range CS1>95% TCF3 95.00 0 NM_003200.4/ interpretable range CS1>95% TCIRG1 95.00 0 NM_006019.3/ interpretable range CS1>95% TCN2 95.00 0 NM_000355.3/ interpretable range CS1>95% TERT 95.00 0 NM_198253.2/ interpretable range CS1>95% TET2 95.00 0 NM_001127208.2/ interpretable range CS1>95% TFRC 95.00 0 NM_003234.3/ interpretable range CS1>95% TGFB1 95.00 0 NM_000660.6/ interpretable range CS1>95% TGFBR1 95.00 0 NM_004612.3/ interpretable range CS1>95% TGFBR2 95.00 0 NM_003242.5/ interpretable range CS1>95% THBD 95.00 0 NM_000361.2/ interpretable range CS1>95% TICAM1 95.00 0 NM_182919.3/ interpretable range CS1>95% TINF2 95.00 0 NM_001099274.1/ interpretable range CS1>95% TLR3 95.00 0 NM_003265.2/ interpretable range CS1>95% TLR7 95.00 0 NM_016562.3/ interpretable range CS1>95% TLR8 95.00 0 NM_138636.5/ interpretable range CS1>95% TMC6 95.00 0 NM_007267.7/ interpretable range CS1>95% TMC8 95.00 0 NM_152468.4/ interpretable range CS1>95% TNFAIP3 95.00 0 NM_198282.3/ interpretable range CS1>95% TNFRSF11A 95.00 0 NM_006290.3/ interpretable range CS1>95% TNFRSF13B 95.00 0 NM_003839.3/ interpretable range CS1>95% TNFRSF13C 95.00 0 NM_012452.2/ interpretable range CS1>95% TNFRSF1A 95.00 0 NM_052945.3/ interpretable range CS1>95% TNFRSF4 95.00 0 NM_001065.3/ interpretable range CS1>95% TNFRSF9 95.00 0 NM_003327.3/ interpretable range CS1>95% TNFSF11 95.00 0 NM_001561.5/ interpretable range CS1>95% TNFSF12 95.00 0 NM_003701.3/ interpretable range CS1>95% TNFSF13 95.00 0 NM_003809.2/ interpretable range CS1>95% TOP2B 95.00 0 NM_003808.3/ interpretable range CS1>95% TPP2 95.00 0 NM_001068.3/ interpretable range CS1>95% TRAF3 95.00 0 NM_003291.3/ interpretable range CS1>95% TRAF3IP2 95.00 0 NM_003300.3/ interpretable range CS1>95% TREX1 95.00 0 NM_147686.3/ interpretable range CS1>95% TRIM22 95.00 0 NM_033629.5/ interpretable range CS1>95% TRNT1 95.00 0 NM_006074.4/ interpretable range CS1>95% TTC7A 95.00 0 NM_014639.3/ interpretable range CS1>95% TYK2 95.00 0 NM_020458.3/ interpretable range CS1>95% UBA1 95.00 0 NM_003331.4/ interpretable range CS1>95% UNC13D 95.00 0 NM_003334.3/ interpretable range CS1>95% UNC93B1 95.00 0 NM_199242.2/ interpretable range CS1>95% UNG 95.00 0 NM_030930.3/ interpretable range CS1>95% USB1 95.00 0 NM_080911.2/ interpretable range CS1>95% USP18 95.00 0 NM_024598.3/ interpretable range CS1>95% VPS13B 95.00 0 NM_017414.3/ interpretable range CS1>95% VPS45 95.00 0 NM_017890.4/ interpretable range CS1>95% WAS 95.00 0 NM_007259.5/ interpretable range CS1>95% WDR1 95.00 0 NM_000377.2/ interpretable range CS1>95% WIPF1 95.00 0 NM_017491.4/ interpretable range CS1>95% WRAP53 95.00 0 NM_001077269.1/ interpretable range CS1>95% XIAP 95.00 1 NM_001167.3/ interpretable range CS1>95% ZAP70 95.00 0 NM_001079.3/ interpretable range CS1>95% ZBTB24 95.00 0 NM_014797.2/ interpretable range CS1>95% ZNF341 95.00 0 NM_032819.4/ interpretable range CS1>95% ZNFX1 95.00 0 NM_021035.2/ interpretable range CS1>95% -
Prostate cancer (3 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments BRCA1 100.00 1 BRCA2 100.00 1 CHEK2 100.00 1 -
Pulmonary Fibrosis (21 genes) + rs35705950 (MUC5B gene) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCA3 100.00 0 NM_001089.2 ACD 100.00 0 NM_001082486.1 CSF2RA 100.00 0 NM_006140.4 CSF2RB 100.00 0 NM_000395.2 DKC1 100.00 0 NM_001363.4 GATA2 100.00 0 NM_032638.4 GBA 100.00 0 NM_001005741.2 HPS1 100.00 0 NM_000195.3 HPS4 100.00 0 NM_022081.5 NHP2 100.00 0 NM_017838.3 NKX2-1 100.00 0 NM_001079668.2 PARN 100.00 0 NM_002582.3 RTEL1 100.00 0 NM_032957.4 SFTPA1 100.00 0 NM_005411.4 SFTPA2 100.00 0 NM_001098668.2 SFTPC 100.00 0 NM_003018.3 SLC34A2 100.00 0 NM_006424.2 SMPD1 100.00 0 NM_000543.4 TERC 100.00 0 NR_001566.1 TERT 100.00 0 NM_198253.2 TINF2 100.00 0 NM_001099274.1 -
RASopathy - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 95.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range BRAF 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range CBL 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range HRAS 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range KRAS 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range LZTR1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range MAP2K1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range MAP2K2 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range MRAS 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range NRAS 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range PPP1CB 95.00 0 core gene +% of coding sequence represents the minimum CS1 interpretable range PTPN11 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range RAF1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range RASA1 95.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range RASA2 95.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range RIT1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range RRAS 80.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range RRAS2 95.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range SHOC2 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range SOS1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range SOS2 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range -
Schwannoma Predisposition (3 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments NF2 100.00 1 SMARCB1 100.00 1 LZTR1 100.00 1 -
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ATXN1 ATXN2 ATXN3 CACNA1A ATXN7 -
Telangiectasia,hereditary hemorrhagic of Rendu Osler and Weber (5 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACVRL1 100.00 1 ENG 100.00 1 SMAD4 100.00 0 GDF2 100.00 0 EPHB4 100.00 0 -
Trombosis - Hemostasis (107 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC4 95.00 0 NM_005845.4/ interpretable range CS1>95% ABCG5 95.00 0 NM_022436.2/ interpretable range CS1>95% ABCG8 95.00 0 NM_022437.2/ interpretable range CS1>95% ACTB 95.00 0 NM_001101.4/ interpretable range CS1>95% ACTN1 95.00 0 NM_001130004.1/ interpretable range CS1>95% ACVRL1 95.00 0 NM_000020.2/ interpretable range CS1>95% ADAMTS13 95.00 0 NM_139025.4/ interpretable range CS1>95% ANKRD26 95.00 0 NM_014915.2/ interpretable range CS1>95% ANO6 95.00 0 NM_001025356.2/ interpretable range CS1>95% AP3B1 95.00 0 NM_003664.4/ interpretable range CS1>95% AP3D1 95.00 0 NM_001261826.1/ interpretable range CS1>95% ARPC1B 95.00 0 NM_005720.3/ interpretable range CS1>95% BLOC1S3 95.00 0 NM_212550.3/ interpretable range CS1>95% BLOC1S5 95.00 0 NM_201280.2/ interpretable range CS1>95% BLOC1S6 95.00 0 NM_012388.2/ interpretable range CS1>95% CDC42 95.00 0 NM_001791.3/ interpretable range CS1>95% CHST14 95.00 0 NM_130468.3/ interpretable range CS1>95% COL1A1 95.00 0 NM_000088.3/ interpretable range CS1>95% COL3A1 95.00 0 NM_000090.3/ interpretable range CS1>95% COL4A1 95.00 0 NM_001845.5/ interpretable range CS1>95% COL4A2 95.00 0 NM_001846.3/ interpretable range CS1>95% COL5A1 95.00 0 NM_000093.4/ interpretable range CS1>95% COL5A2 95.00 0 NM_000393.3/ interpretable range CS1>95% CYCS 95.00 0 NM_018947.5/ interpretable range CS1>95% DIAPH1 95.00 0 NM_005219.4/ interpretable range CS1>95% DTNBP1 95.00 0 NM_032122.4/ interpretable range CS1>95% ENG 95.00 0 NM_000118.3/ interpretable range CS1>95% ETV6 95.00 0 NM_001987.4/ interpretable range CS1>95% F10 95.00 0 NM_000504.3/ interpretable range CS1>95% F11 95.00 0 NM_000128.3/ interpretable range CS1>95% F12 95.00 0 NM_000505.3/ interpretable range CS1>95% F13A1 95.00 0 NM_000129.3/ interpretable range CS1>95% F13B 95.00 0 NM_001994.2/ interpretable range CS1>95% F2 95.00 0 NM_000506.3/ interpretable range CS1>95% F5 95.00 0 NM_000130.4/ interpretable range CS1>95% F7 95.00 0 NM_000131.4/ interpretable range CS1>95% F8 95.00 0 NM_000132.3/ interpretable range CS1>95% F9 95.00 0 NM_000133.3/ interpretable range CS1>95% FERMT3 95.00 0 NM_031471.5/ interpretable range CS1>95% FGA 95.00 0 NM_021871.2/ interpretable range CS1>95% FGB 95.00 0 NM_005141.4/ interpretable range CS1>95% FGG 95.00 0 NM_000509.4/ interpretable range CS1>95% FLII 95.00 0 NM_002017.4/ interpretable range CS1>95% FLNA 95.00 0 NM_001456.3/ interpretable range CS1>95% FYB1 95.00 0 NM_001465.5/ interpretable range CS1>95% GATA1 95.00 0 NM_002049.3/ interpretable range CS1>95% GDF2 95.00 0 NM_016204.3/ interpretable range CS1>95% GFI1B 95.00 0 NM_004188.5/ interpretable range CS1>95% GGCX 95.00 0 NM_000821.5/ interpretable range CS1>95% GNE 95.00 0 NM_001128227.2/ interpretable range CS1>95% GP1BA 95.00 0 NM_000173.6/ interpretable range CS1>95% GP1BB 95.00 0 NM_000407.4/ interpretable range CS1>95% GP6 95.00 0 NM_001083899.2/ interpretable range CS1>95% GP9 95.00 0 NM_000174.4/ interpretable range CS1>95% HOXA11 95.00 0 NM_005523.5/ interpretable range CS1>95% HPS1 95.00 0 NM_000195.3/ interpretable range CS1>95% HPS3 95.00 0 NM_032383.3/ interpretable range CS1>95% HPS4 95.00 0 NM_022081.5/ interpretable range CS1>95% HPS5 95.00 0 NM_181507.1/ interpretable range CS1>95% HPS6 95.00 0 NM_024747.5/ interpretable range CS1>95% HRG 95.00 0 NM_000412.3/ interpretable range CS1>95% IKZF5 95.00 0 NM_001271840.1/ interpretable range CS1>95% ITGA2B 95.00 0 NM_000419.3/ interpretable range CS1>95% ITGB3 95.00 0 NM_000212.2/ interpretable range CS1>95% KDSR 95.00 0 NM_002035.2/ interpretable range CS1>95% KNG1 95.00 0 NM_001102416.2/ interpretable range CS1>95% LMAN1 95.00 0 NM_005570.3/ interpretable range CS1>95% LYST 95.00 0 NM_000081.3/ interpretable range CS1>95% MCFD2 95.00 0 NM_139279.5/ interpretable range CS1>95% MECOM 95.00 0 NM_001105078.3/ interpretable range CS1>95% MPIG6B 95.00 0 NM_025260.3/ interpretable range CS1>95% MPL 95.00 0 NM_005373.2/ interpretable range CS1>95% MYH9 95.00 0 NM_002473.5/ interpretable range CS1>95% NBEA 95.00 0 NM_015678.4/ interpretable range CS1>95% NBEAL2 95.00 0 NM_015175.2/ interpretable range CS1>95% P2RY12 95.00 0 NM_022788.4/ interpretable range CS1>95% PIGA 95.00 0 NM_002641.3/ interpretable range CS1>95% PLA2G4A 95.00 0 NM_024420.2/ interpretable range CS1>95% PLAU 95.00 0 NM_002658.3/ interpretable range CS1>95% PLG 95.00 0 NM_000301.3/ interpretable range CS1>95% PROC 95.00 0 NM_000312.3/ interpretable range CS1>95% PROS1 95.00 0 NM_000313.3/ interpretable range CS1>95% PTGS1 95.00 0 NM_000962.3/ interpretable range CS1>95% RASGRP2 95.00 0 NM_153819.1/ interpretable range CS1>95% RBM8A 95.00 0 NM_005105.4/ interpretable range CS1>95% RUNX1 95.00 0 NM_001754.4/ interpretable range CS1>95% SERPINC1 95.00 0 NM_000488.3/ interpretable range CS1>95% SERPIND1 95.00 0 NM_000185.3/ interpretable range CS1>95% SERPINE1 95.00 0 NM_000602.4/ interpretable range CS1>95% SERPINF2 95.00 0 NM_000934.3/ interpretable range CS1>95% SLFN14 95.00 0 NM_001129820.1/ interpretable range CS1>95% SMAD4 95.00 0 NM_005359.5/ interpretable range CS1>95% SRC 95.00 0 NM_005417.4/ interpretable range CS1>95% STIM1 95.00 0 NM_003156.3/ interpretable range CS1>95% STXBP2 95.00 0 NM_006949.3/ interpretable range CS1>95% TBXA2R 95.00 0 NM_001060.5/ interpretable range CS1>95% TBXAS1 95.00 0 NM_001061.4/ interpretable range CS1>95% THBD 95.00 0 NM_000361.2/ interpretable range CS1>95% THPO 95.00 0 NM_000460.3/ interpretable range CS1>95% TPM4 95.00 0 NM_001145160.1/ interpretable range CS1>95% TUBB1 95.00 0 NM_030773.3/ interpretable range CS1>95% VIPAS39 95.00 0 NM_022067.3/ interpretable range CS1>95% VKORC1 95.00 0 NM_024006.4/ interpretable range CS1>95% VPS33B 95.00 0 NM_018668.4/ interpretable range CS1>95% VWF 95.00 0 NM_000552.3/ interpretable range CS1>95% WAS 95.00 0 NM_000377.2/ interpretable range CS1>95% RAP1B 95.00 -2 NM_015646.6/ interpretable range CS1>95% -
Wilms' tumor (2 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments DICER1 100.00 1 WT1 100.00 1 -
chILD (34 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCA3 95.00 0 NM_001089.3 / interpretable range CS1>95% AP3B1 95.00 0 NM_003664.5/ interpretable range CS1>95% AP3D1 95.00 0 NM_001261826.3/ interpretable range CS1>95% BLOC1S3 95.00 0 NM_212550.5/ interpretable range CS1>95% BLOC1S5 95.00 0 NM_201280.3/ interpretable range CS1>95% BLOC1S6 95.00 0 NM_012388.4/ interpretable range CS1>95% COPA 95.00 0 NM_004371.4/ interpretable range CS1>95% CSF2RA 95.00 0 NM_006140.6/ interpretable range CS1>95% CSF2RB 95.00 0 NM_000395.3/ interpretable range CS1>95% DTNBP1 95.00 0 NM_032122.5/ interpretable range CS1>95% FLNA 95.00 0 NM_001456.4/ interpretable range CS1>95% FOXF1 95.00 0 NM_001451.3/ interpretable range CS1>95% GATA2 95.00 0 NM_032638.5/ interpretable range CS1>95% HPS1 95.00 0 NM_000195.5/ interpretable range CS1>95% HPS3 95.00 0 NM_022081.6/ interpretable range CS1>95% HPS5 95.00 0 NM_181507.2/ interpretable range CS1>95% HPS6 95.00 0 NM_024747.6/ interpretable range CS1>95% MARS1 95.00 0 NM_004990.4/ interpretable range CS1>95% NKX2-1 95.00 0 NM_001079668.3/ interpretable range CS1>95% SFTPA1 95.00 0 NM_005411.5/ interpretable range CS1>95% SFTPA2 95.00 0 NM_001098668.4/ interpretable range CS1>95% SFTPB 95.00 0 NM_198843.3/ interpretable range CS1>95% SFTPC 95.00 0 NM_003018.4/ interpretable range CS1>95% STING1 95.00 0 NM_198282.4/ interpretable range CS1>95% TBX4 95.00 0 NM_018488.3/ interpretable range CS1>95% TERC 95.00 0 NR_001566.1/ interpretable range CS1>95% TERT 95.00 0 NM_198253.3/ interpretable range CS1>95% HPS4 95.00 0 NM_022081.6/ interpretable range CS1>95% MUC5B 95.00 0 NM_002458.3/ interpretable range CS1>95% PARN 95.00 0 NM_002582.4/ interpretable range CS1>95% RTEL1 95.00 0 NM_032957.5/ interpretable range CS1>95% SLC34A2 95.00 0 NM_006424.3/ interpretable range CS1>95% SLC7A7 95.00 0 NM_001126106.4/ interpretable range CS1>95% RAB5B 95.00 0 NM_002868.4/ interpretable range CS1>95% -
epidermal nevus syndrome (26 genes) - KUL