- Laboratories
- Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Name of the laboratory: |
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
|
Abbreviation: |
IPG
|
RIZIV number: |
85299028-996
|
Address: |
Avenue Georges Lemaître, 25 |
Telephone: | |
Fax: | |
E-mail: |
accueil@ipg.be
|
URL: | |
EQA: |
2016
DNA Sequencing – NGS (vGermline)
EMQN
2017
DNA Sequencing – NGS (vGermline)
EMQN
2018
DNA Sequencing – NGS (vGermline)
EMQN
2019
DNA Sequencing – NGS (vGermline)
EMQN
2020
DNA Sequencing – NGS (vGermline)
EMQN
2021
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
2020
DNA Sequencing - Sanger
EMQN
2021
DNA Sequencing - Sanger
EMQN
2022
DNA Sequencing - Sanger
EMQN
2017
Somatic NGS mutation testing
EMQN
2019
Somatic NGS mutation testing
EMQN
2015
Blood -postnatal
GenQA (Genomics Quality Assessment)
2016
Blood -postnatal
GenQA (Genomics Quality Assessment)
2017
Blood -postnatal
GenQA (Genomics Quality Assessment)
2018
Blood -postnatal
GenQA (Genomics Quality Assessment)
2019
Blood -postnatal
GenQA (Genomics Quality Assessment)
2020
Blood postnatal
GenQA (Genomics Quality Assessment)
2016
Molecular Rapid aneuploidy QF-PCR/MLPA/BoBs
GenQA (Genomics Quality Assessment)
2017
Molecular Rapid aneuploidy QF-PCR/MLPA/BoBs
GenQA (Genomics Quality Assessment)
2018
Molecular Rapid aneuploidy QF-PCR/MLPA/BoBs
GenQA (Genomics Quality Assessment)
2019
Molecular Rapid aneuploidy QF-PCR/MLPA/BoBs
GenQA (Genomics Quality Assessment)
2021
Rapid prenatal testing for common aneuploidies
GenQA (Genomics Quality Assessment)
2015
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2016
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2017
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2018
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2019
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2020
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2021
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2015
Postnatal constitutional CNV detection (array)
GenQA (Genomics Quality Assessment)
2016
Postnatal constitutional CNV detection (array)
GenQA (Genomics Quality Assessment)
2017
Postnatal constitutional CNV detection (array)
GenQA (Genomics Quality Assessment)
2018
Postnatal constitutional CNV detection (array)
GenQA (Genomics Quality Assessment)
2019
Postnatal constitutional CNV detection (array)
GenQA (Genomics Quality Assessment)
2020
Postnatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2021
Postnatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2022
Postnatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2021
Recurrent miscarriage karyotyping
GenQA (Genomics Quality Assessment)
2021
Sex chromosome disorders karyotyping
GenQA (Genomics Quality Assessment)
2022
Postnatal karyotyping
GenQA (Genomics Quality Assessment)
2022
Pregnancy loss
GenQA (Genomics Quality Assessment)
2021
Pregnancy loss
GenQA (Genomics Quality Assessment)
2021
Pathogenicity of germline sequence variant
GenQA (Genomics Quality Assessment)
2022
Pathogenicity of germline sequence variant
GenQA (Genomics Quality Assessment)
2022
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2022
Non-invasive prenatal testing (NIPT) for common aneuploidies
EMQN
|
Created: |
07 May 2018 - 08:13
|
Changed: |
23 Jan 2023 - 15:45
|
- Bronchiectasies with or without elevated sweat chloride panel (5 genes)
- Aarskog-Scott syndrome
- Achondroplasia (hot spot mutation - p.Gly380)
- Agnathia-otocephaly complex
- Alport autosomal recessive and X-linked and hematuria (3 genes)
- Alzheimer Disease, late onset (AD2) / ApoE2, E3, and E4 isoforms
- Amyloidosis hereditary / Dystransthyretinemic hyperthyroxinemia
- Angelman / Prader Willi Syndrome
- Atypical Hemolytic Uremic Syndrome (aHUS) (gene panel)
- Autism (gene panel)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA9 (COCH partial sequencing)
- Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c )
- Azoo-oligospermia (microdeletion of 3' regions of Y chromosome AZF a, b and c)
- Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene)
- Breast and Ovarian Cancer, HBOC, Familial (12 genes)
- Breast cancer, hereditary / Li-Fraumeni syndrome (Hot spot mutation - 1100delC)
- CHARGE syndrome
- Carnitine Palmitoyltransferase type II
- Cataract, juvenile with microcornea and glucosuria
- Charcot-Marie-Tooth type 1A (CMT1A) / Hereditary Neuropathy with Liability to Pressure Palsies
- Ciliopathy / polycystic kidney and liver diseases / ADTKD/ nephronophtisis / Bardet-Biedl syndromes and kidney cancers (68 genes)
- Congenital generalized lipodystrophy type 1
- Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His)
- Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg)
- Crisponi syndrome
- Currarino syndrome
- Cystic Fibrosis / related disorders (50 hot spot mutations)
- Deafness, X-linked
- Dentatorubral pallidoluysian atrophy (DRPLA) - CAG repeat expansion
- Duane-radial ray syndrome
- Ellis-van Creveld syndrome (2 genes)
- Epilepsy, seizures (gene panel)
- Fabry disease
- Facioscapulohumeral Muscular Dystrophy 2 (hypomethylation D4Z4 repeats)
- Facioscapulohumeral muscular dystrophy 1A (D4Z4 repeat)
- Floating Harbor
- Fragile X syndrome/POF/FXTAS - CGG repeat expansion
- Friedreich ataxia - GAA repeat expansion
- Fukuyama congenital muscular dystrophy
- Gilbert syndrome (homozygous A(TA)7TAA allele)
- Hallervorden-Spatz disease (Neurodegeneration with brain iron accumulation type 1) / HARP syndrome (Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis pigmentosa, and Pallidal degeneration)
- Hemochromatosis hereditary type 1 (hot spot mutations p.Cys282Tyr; p.Ser65Cys; p.His63Asp)
- Hereditary Alpha Tryptasemia
- Hereditary Angioedema (5 genes)
- Hereditary cancer (gene panel)
- Huntington disease - CAG repeat expansion
- Hypercholesterolemia, Familial (5 genes)
- Hyperekplexia (gene panel)
- Hyperoxaluria
- Hypertrophic cardiomyopathy (gene panel)
- Hypochondroplasia (hot spot mutation - p.Asn540)
- Hypophosphatasia
- Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder ( Martinez-Frias) syndrome
- Inherited cardiac arrhytmia (gene panel)
- Intellectual Disability (gene panel)
- Kabuki syndrome (gene panel)
- Kennedy disease (Spinal and bulbar muscular atrophy, SBMA) - CAG repeat expansion
- Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6)
- Leri-Weill dyschondrosteosis / SHOX-related short stature
- Lipodystrophy (2 genes)
- Lipodystrophy and/or hyperinsulinism (gene panel-27 genes)
- Lissencephaly / subcortical band heterotopia
- Lissencephaly 3
- Lissencephaly, X-linked / subcortical band heterotopia
- Long chain 3-hydroxyl-CoA dehydrogenase deficiency (hot spot mutation - p.Glu510Gln)
- MODY : Maturity onset Diabete of the Young (21 genes)
- MUC1-VNTR insertion
- Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu)
- Medium chain acyl-CoA dehydrogenase deficiency (MCAD-ACADM)
- Mental retardation, X-linked, syndromic, Borck type
- Microphthalmia, syndromic 5; Retinal dystrophy, early-onset, and pituitary dysfunction
- Microtia, hearing impairment, and cleft palate
- Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (hot spot mutation - m.3243A>G)
- Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure (hot spot mutation - 1555A-G in MT-RNR1)
- Myhre syndrome (hot spot mutation - p.I500)
- Myoclonic epilepsy associated with ragged-red fibers (MERFF) (hot spot mutation - m.8344A>G)
- Myoclonic epilepsy of Unverricht and Lundborg / Progressive myoclonus epilepsy /Baltic myoclonic epilepsy
- Myopathy (gene panel)
- Nephrotic syndrome, Focal Segmental Glomerulosclerosis (FSGS) , Alport syndrome and podocytopathy (33 genes)
- Neurodegeneration (gene panel)
- Neuropathy (gene panel)
- Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome (hot spot mutation - m.8993T>C/G)
- Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes
- Obesity (gene panel-12 genes)
- Oculo Dento Digital Dysplasia
- Overgrowth (gene panel)
- Recessive nonsyndromic hearing loss and deafness DFNB (2 genes)
- Renal or urinary tract malformation (CAKUT) (gene panel)
- Schinzel-Giedion midface retraction syndrome
- Septo-optic dysplasia
- Sex determining region Y
- Short Stature (gene panel)
- Smith Lemli Opitz
- Somatic analysis of the BRCA genes in the context of ovarian cancer treatment (2 genes)
- Spastic Paraplegia (gene panel)
- Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
- Spinocerebellar ataxia (type 13)
- Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 17) - CAG repeat expansion
- Steinert myotonic dystrophy - CTG repeat expansion
- Synpolydactyly / Brachydactyly
- TRANSTHYRETIN (TTR) Analysis
- Thanatophoric dysplasia types 1 and 2 (hot spot mutation - p.Lys650Glu)
- Thiopurine S-Methyltransferase deficiency - TPMT genotyping c.238G>C (rs1800462); c.460G>A (rs1800460); c.719A>G (rs1142345)) - Pharmacogenetics
- Torsion dystonia 1 (DYT1) (hotspot mutation - c.907_909 delGAG)
- Tubulopathy (gene panel)
- Uniparental Disomy
- Waardenburg Syndrome types I and III
- X-chromosome inactivation
- X-linked Opitz G/BBB syndrome
- Alzheimer disease (NON RARE IN EUROPE)
- 16q24.3 microdeletion syndrome
- 2-aminoadipic 2-oxoadipic aciduria
- 3C syndrome
- 3M syndrome
- 45,X/46,XY mixed gonadal dysgenesis
- 46,XX ovotesticular disorder of sex development
- 46,XX testicular disorder of sex development
- 46,XY complete gonadal dysgenesis
- 46,XY partial gonadal dysgenesis
- 5q35 microduplication syndrome
- ADNP syndrome
- ALG8-CDG
- APC-related attenuated familial adenomatous polyposis
- ATP13A2-related juvenile neuronal ceroid lipofuscinosis
- ATTRV122I amyloidosis
- ATTRV30M amyloidosis
- Aarskog-Scott syndrome
- Achondroplasia
- Acro-renal-ocular syndrome
- Acromesomelic dysplasia, Maroteaux type
- Adenylosuccinate lyase deficiency
- Adrenocortical carcinoma
- Adult hepatocellular carcinoma
- Adult hypophosphatasia
- Adult-onset distal myopathy due to VCP mutation
- Agnathia-holoprosencephaly-situs inversus syndrome
- Alagille syndrome due to a NOTCH2 point mutation
- Allan-Herndon-Dudley syndrome
- Alport syndrome
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis type 4
- 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
- Apparent mineralocorticoid excess
- Ataxia-hypogonadism-choroidal dystrophy syndrome
- Ataxia-oculomotor apraxia type 1
- Ataxia-telangiectasia
- Ataxia-telangiectasia-like disorder
- Atypical hemolytic uremic syndrome with anti-factor H antibodies
- Atypical hemolytic uremic syndrome with complement gene abnormality
- Atypical hemolytic-uremic syndrome with B factor anomaly
- Atypical hemolytic-uremic syndrome with C3 anomaly
- Atypical hemolytic-uremic syndrome with H factor anomaly
- Atypical hemolytic-uremic syndrome with I factor anomaly
- Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
- Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
- Atypical pantothenate kinase-associated neurodegeneration
- Autosomal dominant Alport syndrome
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
- Autosomal dominant Charcot-Marie-Tooth disease type 2A1
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2
- Autosomal dominant Charcot-Marie-Tooth disease type 2B
- Autosomal dominant Charcot-Marie-Tooth disease type 2C
- Autosomal dominant Charcot-Marie-Tooth disease type 2D
- 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 2L
- 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 2Q
- Autosomal dominant Charcot-Marie-Tooth disease type 2U
- 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 Charcot-Marie-Tooth disease type 2Z
- Autosomal dominant Robinow syndrome
- Autosomal dominant adult-onset proximal spinal muscular atrophy
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
- Autosomal dominant congenital benign spinal muscular atrophy
- Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
- Autosomal dominant distal renal tubular acidosis
- Autosomal dominant hypocalcemia
- Autosomal dominant hypophosphatemic rickets
- 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 intermediate Charcot-Marie-Tooth disease type E
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
- Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
- Autosomal dominant non-syndromic sensorineural deafness type DFNA
- Autosomal dominant polycystic kidney disease
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
- Autosomal dominant primary hypomagnesemia with hypocalciuria
- Autosomal dominant slowed nerve conduction velocity
- Autosomal dominant spastic paraplegia type 10
- Autosomal dominant spastic paraplegia type 12
- Autosomal dominant spastic paraplegia type 13
- Autosomal dominant spastic paraplegia type 17
- Autosomal dominant spastic paraplegia type 3
- Autosomal dominant spastic paraplegia type 31
- Autosomal dominant spastic paraplegia type 4
- Autosomal dominant spastic paraplegia type 42
- Autosomal dominant spastic paraplegia type 6
- Autosomal dominant spastic paraplegia type 8
- Autosomal recessive Alport syndrome
- Autosomal recessive Charcot-Marie-Tooth disease type 2X
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- Autosomal recessive Robinow syndrome
- Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
- Autosomal recessive axonal neuropathy with neuromyotonia
- Autosomal recessive cerebellar ataxia with late-onset spasticity
- Autosomal recessive distal renal tubular acidosis
- Autosomal recessive hypophosphatemic rickets
- Autosomal recessive infantile hypercalcemia
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
- Autosomal recessive lower motor neuron disease with childhood onset
- Autosomal recessive non-syndromic sensorineural deafness type DFNB
- Autosomal recessive polycystic kidney disease
- Autosomal recessive proximal renal tubular acidosis
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Autosomal recessive spastic paraplegia type 11
- Autosomal recessive spastic paraplegia type 15
- Autosomal recessive spastic paraplegia type 18
- Autosomal recessive spastic paraplegia type 20
- Autosomal recessive spastic paraplegia type 21
- Autosomal recessive spastic paraplegia type 26
- Autosomal recessive spastic paraplegia type 28
- Autosomal recessive spastic paraplegia type 35
- Autosomal recessive spastic paraplegia type 39
- Autosomal recessive spastic paraplegia type 43
- Autosomal recessive spastic paraplegia type 44
- Autosomal recessive spastic paraplegia type 45
- Autosomal recessive spastic paraplegia type 46
- Autosomal recessive spastic paraplegia type 48
- Autosomal recessive spastic paraplegia type 53
- Autosomal recessive spastic paraplegia type 54
- Autosomal recessive spastic paraplegia type 55
- Autosomal recessive spastic paraplegia type 56
- Autosomal recessive spastic paraplegia type 57
- Autosomal recessive spastic paraplegia type 59
- Autosomal recessive spastic paraplegia type 5A
- Autosomal recessive spastic paraplegia type 60
- Autosomal recessive spastic paraplegia type 61
- Autosomal recessive spastic paraplegia type 62
- Autosomal recessive spastic paraplegia type 63
- Autosomal recessive spastic paraplegia type 64
- Autosomal recessive spastic paraplegia type 66
- Autosomal recessive spastic paraplegia type 67
- Autosomal recessive spastic paraplegia type 69
- Autosomal recessive spastic paraplegia type 70
- Autosomal recessive spastic paraplegia type 71
- Autosomal recessive spastic paraplegia type 75
- Autosomal spastic paraplegia type 30
- Autosomal spastic paraplegia type 58
- Autosomal spastic paraplegia type 72
- Azathioprine or 6-mercatopurine toxicity or dose selection
- BAP1-related tumor predisposition syndrome
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- BNAR syndrome
- BOR syndrome
- Baraitser-Winter cerebrofrontofacial syndrome
- Bardet-Biedl syndrome
- Bartter syndrome type 3
- Becker muscular dystrophy
- Beckwith-Wiedemann syndrome due to CDKN1C mutation
- Beckwith-Wiedemann syndrome due to NSD1 mutation
- Behavioral variant of frontotemporal dementia
- Bilateral microtia-deafness-cleft palate syndrome
- Bilateral multicystic dysplastic kidney
- Birt-Hogg-Dubé syndrome
- Brachydactyly-syndactyly, Zhao type
- Branchiootic syndrome
- Butterfly-shaped pigment dystrophy
- CAMOS syndrome
- CHARGE syndrome
- CLOVES syndrome
- COL4A1-related familial vascular leukoencephalopathy
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome
- Carnitine palmitoyl transferase II deficiency, myopathic form
- Carnitine palmitoyl transferase II deficiency, neonatal form
- Carnitine palmitoyl transferase II deficiency, severe infantile form
- Caroli disease
- Catecholaminergic polymorphic ventricular tachycardia
- Cerebellar ataxia-hypogonadism syndrome
- Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
- Charcot-Marie-Tooth disease type 1A
- Charcot-Marie-Tooth disease type 1B
- Charcot-Marie-Tooth disease type 1C
- Charcot-Marie-Tooth disease type 1D
- Charcot-Marie-Tooth disease type 1E
- Charcot-Marie-Tooth disease type 1F
- Charcot-Marie-Tooth disease type 2B1
- Charcot-Marie-Tooth disease type 2B2
- Charcot-Marie-Tooth disease type 2B5
- Charcot-Marie-Tooth disease type 2H
- Charcot-Marie-Tooth disease type 2P
- Charcot-Marie-Tooth disease type 2R
- Charcot-Marie-Tooth disease type 2S
- Charcot-Marie-Tooth disease type 2T
- Charcot-Marie-Tooth disease type 4A
- Charcot-Marie-Tooth disease type 4B1
- Charcot-Marie-Tooth disease type 4B2
- Charcot-Marie-Tooth disease type 4B3
- Charcot-Marie-Tooth disease type 4C
- Charcot-Marie-Tooth disease type 4D
- Charcot-Marie-Tooth disease type 4E
- Charcot-Marie-Tooth disease type 4F
- Charcot-Marie-Tooth disease type 4G
- Charcot-Marie-Tooth disease type 4H
- Charcot-Marie-Tooth disease type 4J
- Childhood-onset hypophosphatasia
- Classic pantothenate kinase-associated neurodegeneration
- Classic progressive supranuclear palsy syndrome
- Coffin-Lowry syndrome
- Combined oxidative phosphorylation defect type 7
- Combined pituitary hormone deficiencies, genetic forms
- Complement component 3 deficiency
- Congenital bilateral absence of vas deferens
- Congenital cataracts-facial dysmorphism-neuropathy syndrome
- Congenital fiber-type disproportion myopathy
- Congenital generalized lipodystrophy
- Congenital hydronephrosis
- Congenital muscular dystrophy, Fukuyama type
- Congenital nephrotic syndrome, Finnish type
- Congenital thrombotic thrombocytopenic purpura
- Constitutional mismatch repair deficiency syndrome
- Cornelia de Lange syndrome
- Corpus callosum agenesis-neuronopathy syndrome
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- Costello syndrome
- Cowden syndrome
- Crisponi syndrome
- Crouzon syndrome-acanthosis nigricans syndrome
- Currarino syndrome
- Cystic fibrosis
- Cystinuria type A
- DNAJB2-related Charcot-Marie-Tooth disease type 2
- DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Dejerine-Sottas syndrome
- Deletion 5q35
- Dense deposit disease
- Dentatorubral pallidoluysian atrophy
- Denys-Drash syndrome
- Desmoid tumor
- Distal hereditary motor neuropathy type 2
- Distal hereditary motor neuropathy type 5
- Distal hereditary motor neuropathy type 7
- Distal hereditary motor neuropathy, Jerash type
- Distal renal tubular acidosis with anemia
- Dominant hypophosphatemia with nephrolithiasis or osteoporosis
- Down syndrome
- Dravet syndrome
- Duchenne muscular dystrophy
- EAST syndrome
- Early-onset autosomal dominant Alzheimer disease
- Early-onset generalized limb-onset dystonia
- Ellis Van Creveld syndrome
- F12-related hereditary angioedema with normal C1Inh
- Fabry disease
- Facioscapulohumeral dystrophy
- Familial Alzheimer-like prion disease
- Familial adenomatous polyposis
- Familial adenomatous polyposis due to 5q22.2 microdeletion
- Familial atrial fibrillation
- Familial atypical multiple mole melanoma syndrome
- Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
- Familial dysautonomia
- Familial hypocalciuric hypercalcemia type 1
- Familial hypocalciuric hypercalcemia type 2
- Familial hypocalciuric hypercalcemia type 3
- Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
- Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
- Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
- Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
- Familial isolated dilated cardiomyopathy
- Familial isolated restrictive cardiomyopathy
- Familial juvenile hyperuricemic nephropathy type 1
- Familial melanoma
- Familial osteochondritis dissecans
- Familial pancreatic carcinoma
- Familial primary hypomagnesemia with normocalciuria and normocalcemia
- Familial prostate cancer
- Familial short QT syndrome
- Familial vesicoureteral reflux
- Familial visceral myopathy
- Fanconi anemia
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
- Fatal familial insomnia
- Fatty acid hydroxylase-associated neurodegeneration
- Fetal Gaucher disease
- Floating-Harbor syndrome
- Fragile X syndrome
- Fragile X-associated tremor/ataxia syndrome
- Fraser syndrome
- Frasier syndrome
- Friedreich ataxia
- Frontotemporal dementia with motor neuron disease
- Galloway-Mowat syndrome
- Gardner syndrome
- Gaucher disease type 1
- Gaucher disease type 2
- Gaucher disease type 3
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- Generalized juvenile polyposis/juvenile polyposis coli
- Generalized pseudohypoaldosteronism type 1
- Genetic steroid-resistant nephrotic syndrome
- Gerstmann-Straussler-Scheinker syndrome
- Giant axonal neuropathy
- Gilbert syndrome (NON RARE IN EUROPE)
- Gitelman syndrome
- Glycogen storage disease due to LAMP-2 deficiency
- Growth delay due to insulin-like growth factor I resistance
- Growth delay due to insulin-like growth factor type 1 deficiency
- HANAC syndrome
- HNF1B-related autosomal dominant tubulointerstitial kidney disease
- Hajdu-Cheney syndrome
- Hemimegalencephaly
- Hemochromatosis type 1 (NON RARE IN EUROPE)
- Hemolytic uremic syndrome with DGKE deficiency
- Hereditary ATTR amyloidosis
- Hereditary Alpha Tryptasemia
- Hereditary angioedema type 1
- Hereditary angioedema type 2
- Hereditary breast and ovarian cancer syndrome
- Hereditary breast cancer
- Hereditary chronic pancreatitis
- Hereditary clear cell renal cell carcinoma
- Hereditary diffuse gastric cancer
- Hereditary hyperekplexia
- Hereditary hypophosphatemic rickets with hypercalciuria
- Hereditary late-onset Parkinson disease
- Hereditary leiomyomatosis and renal cell cancer
- Hereditary mixed polyposis syndrome
- Hereditary motor and sensory neuropathy, Okinawa type
- Hereditary neuropathy with liability to pressure palsies
- Hereditary papillary renal cell carcinoma
- Hereditary sensorimotor neuropathy with hyperelastic skin
- Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
- Hereditary sensory and autonomic neuropathy type 1
- Hereditary sensory and autonomic neuropathy type 2
- Hereditary sensory and autonomic neuropathy type 4
- Hereditary sensory and autonomic neuropathy type 5
- Hereditary sensory and autonomic neuropathy type 6
- Hereditary sensory and autonomic neuropathy type 7
- Hereditary sensory and autonomic neuropathy type 8
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Hereditary site-specific ovarian cancer syndrome
- Homozygous familial hypercholesterolemia
- Huntington disease
- Huntington disease-like 1
- Huntington disease-like syndrome due to C9ORF72 expansions
- Hyperekplexia-epilepsy syndrome
- Hypochondroplasia
- Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
- Hypoparathyroidism-sensorineural deafness-renal disease syndrome
- Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
- Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- Hypotonia-cystinuria syndrome
- IMAGe syndrome
- Idiopathic bronchiectasis
- Idiopathic hypercalciuria
- Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation
- Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis
- Idiopathic steroid-sensitive nephrotic syndrome with minimal change
- Immunodeficiency due to a late component of complement deficiency
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Infantile hypophosphatasia
- Infantile nephronophthisis
- Infantile-onset ascending hereditary spastic paralysis
- Inherited Creutzfeldt-Jakob disease
- Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
- Inherited congenital spastic tetraplegia
- Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
- Intellectual disability-expressive aphasia-facial dysmorphism syndrome
- Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
- Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
- Isolated autosomal dominant hypomagnesemia, Glaudemans type
- Isolated growth hormone deficiency type IB
- Isolated growth hormone deficiency type II
- Isolated neonatal sclerosing cholangitis
- Isolated polycystic liver disease
- Isolated succinate-CoQ reductase deficiency
- Jervell and Lange-Nielsen syndrome
- Jeune syndrome
- Joubert syndrome
- Joubert syndrome with hepatic defect
- Joubert syndrome with ocular defect
- Joubert syndrome with oculorenal defect
- Joubert syndrome with renal defect
- Juvenile amyotrophic lateral sclerosis
- Juvenile cataract-microcornea-renal glucosuria syndrome
- Juvenile nephronophthisis
- Juvenile polyposis of infancy
- Juvenile primary lateral sclerosis
- KBG syndrome
- Kabuki syndrome
- Kallmann syndrome
- Karyomegalic interstitial nephritis
- Kennedy disease
- Kufor-Rakeb syndrome
- Kuru
- LAMB2-related infantile-onset nephrotic syndrome
- Langer mesomelic dysplasia
- Laron syndrome
- Laron syndrome with immunodeficiency
- Late-onset nephronophthisis
- Leber hereditary optic neuropathy
- Left ventricular noncompaction
- Leigh syndrome with nephrotic syndrome
- Li-Fraumeni syndrome
- Liddle syndrome
- Lissencephaly due to LIS1 mutation
- Lissencephaly due to TUBA1A mutation
- Lissencephaly type 1 due to doublecortin gene mutation
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Lynch syndrome
- Léri-Weill dyschondrosteosis
- MEHMO syndrome
- MELAS
- MERRF
- MME-related autosomal dominant Charcot Marie Tooth disease type 2
- MODY
- MSH3-related attenuated familial adenomatous polyposis
- MUC1-related autosomal dominant tubulointerstitial kidney disease
- MUTYH-related attenuated familial adenomatous polyposis
- MYH9-related disease
- Machado-Joseph disease type 3
- Malan overgrowth syndrome
- Marshall-Smith syndrome
- Meckel syndrome
- Medium chain acyl-CoA dehydrogenase deficiency
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
- Melanoma and neural system tumor syndrome
- Menkes disease
- Mitochondrial neurogastrointestinal encephalomyopathy
- Mitochondrial non-syndromic sensorineural deafness
- Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
- Muenke syndrome
- Muir-Torre syndrome
- Mulibrey nanism
- Mutilating hereditary sensory neuropathy with spastic paraplegia
- Myhre syndrome
- Müllerian aplasia and hyperandrogenism
- NARP syndrome
- NPHP3-related Meckel-like syndrome
- NTHL1-related attenuated familial adenomatous polyposis
- Nail-patella-like renal disease
- Nephroblastoma
- Nephrogenic diabetes insipidus
- Nephrogenic syndrome of inappropriate antidiuresis
- Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
- Neuropathy with hearing impairment
- Nijmegen breakage syndrome
- Nijmegen breakage syndrome-like disorder
- Non-specific early-onset epileptic encephalopathy
- Noonan syndrome
- Noonan syndrome with multiple lentigines
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
- Noonan syndrome-like disorder with loose anagen hair
- Occipital horn syndrome
- Oculodentodigital dysplasia
- Odontohypophosphatasia
- Orofaciodigital syndrome type 1
- Orofaciodigital syndrome type 6
- Osteosarcoma
- PEHO syndrome
- PLG-related hereditary angioedema with normal C1Inh
- PMM2-CDG
- Pallister-Hall syndrome
- Papillary renal cell carcinoma
- Parkinson-dementia complex of Guam
- Parkinsonian-pyramidal syndrome
- Partial chromosome Y deletion
- Perinatal lethal hypophosphatasia
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- Perry syndrome
- Peutz-Jeghers syndrome
- Pierson syndrome
- Polymerase proofreading-related adenomatous polyposis
- Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
- Pontocerebellar hypoplasia type 9
- 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 2
- Prenatal benign hypophosphatasia
- Primary Fanconi renotubular syndrome
- Primary hyperoxaluria type 1
- Primary hyperoxaluria type 2
- Primary hyperoxaluria type 3
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
- Primary hypomagnesemia with secondary hypocalcemia
- Progressive myoclonic epilepsy type 1
- Progressive non-fluent aphasia
- Progressive supranuclear palsy-corticobasal syndrome
- Progressive supranuclear palsy-parkinsonism syndrome
- Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
- Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
- 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
- Pseudohypoaldosteronism type 2D
- Pseudohypoaldosteronism type 2E
- Pterin-4 alpha-carbinolamine dehydratase deficiency
- REN-related autosomal dominant tubulointerstitial kidney disease
- Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
- Refsum disease
- Renal agenesis, unilateral
- Renal coloboma syndrome
- Renal hypoplasia, bilateral
- Renal pseudohypoaldosteronism type 1
- Renal tubular dysgenesis of genetic origin
- Renal-hepatic-pancreatic dysplasia
- Romano-Ward syndrome
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- SERKAL syndrome
- SHORT syndrome
- SHOX-related short stature
- SIX2-related frontonasal dysplasia
- Saethre-Chotzen syndrome
- Saldino-Mainzer syndrome
- Scapuloperoneal spinal muscular atrophy
- Schinzel-Giedion syndrome
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
- Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
- Semantic dementia
- Senior-Boichis syndrome
- Senior-Loken syndrome
- Septo-optic dysplasia spectrum
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
- Severe intellectual disability and progressive spastic paraplegia
- Severe neurodegenerative syndrome with lipodystrophy
- Short stature due to GHSR deficiency
- Short stature due to growth hormone qualitative anomaly
- Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
- Short stature due to partial GHR deficiency
- Short stature due to primary acid-labile subunit deficiency
- Short stature-advanced bone age-early-onset osteoarthritis syndrome
- Silver-Russell syndrome due to a point mutation
- Simpson-Golabi-Behmel syndrome
- Smith-Lemli-Opitz syndrome
- Sotos syndrome
- Spastic paraplegia type 2
- Spastic paraplegia type 7
- Spastic paraplegia-Paget disease of bone syndrome
- Spastic paraplegia-optic atrophy-neuropathy syndrome
- Spinal muscular atrophy with respiratory distress type 1
- Spinocerebellar ataxia type 1
- Spinocerebellar ataxia type 13
- Spinocerebellar ataxia type 17
- Spinocerebellar ataxia type 18
- Spinocerebellar ataxia type 2
- Spinocerebellar ataxia type 6
- Spinocerebellar ataxia type 7
- Spinocerebellar ataxia with axonal neuropathy type 1
- Spinocerebellar ataxia with axonal neuropathy type 2
- Spondyloepimetaphyseal dysplasia, Bieganski type
- Spondyloepimetaphyseal dysplasia, aggrecan type
- Spondyloepiphyseal dysplasia, Kimberley type
- Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
- Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
- Steinert myotonic dystrophy
- Subcortical band heterotopia
- Symptomatic form of Coffin-Lowry syndrome in female carriers
- 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 microphthalmia type 5
- Tall stature-scoliosis-macrodactyly of the great toes syndrome
- Tatton-Brown-Rahman syndrome
- Thanatophoric dysplasia type 1
- Thanatophoric dysplasia type 2
- Townes-Brocks syndrome
- Trisomy 13
- Trisomy 18
- Turcot syndrome with polyposis
- UMOD-related autosomal dominant tubulointerstitial kidney disease
- Unilateral multicystic dysplastic kidney
- Uveal melanoma
- Ventriculomegaly-cystic kidney disease
- Von Hippel-Lindau disease
- WAGR syndrome
- Waardenburg syndrome type 1
- Waardenburg syndrome type 3
- Weaver syndrome
- X-linked Alport syndrome
- X-linked Alport syndrome-diffuse leiomyomatosis
- X-linked Charcot-Marie-Tooth disease type 1
- X-linked Charcot-Marie-Tooth disease type 4
- X-linked Charcot-Marie-Tooth disease type 5
- X-linked Charcot-Marie-Tooth disease type 6
- X-linked Opitz G/BBB syndrome
- X-linked complicated spastic paraplegia type 1
- X-linked diffuse leiomyomatosis-Alport syndrome
- X-linked distal spinal muscular atrophy type 3
- X-linked hereditary sensory and autonomic neuropathy with deafness
- X-linked hypophosphatemia
- X-linked spastic paraplegia type 34
- Xq21 microdeletion syndrome
- Young adult-onset distal hereditary motor neuropathy
- Young-onset Parkinson disease
-
Alport (X-linked and recessive) (3 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments COL4A5 100.00 1 NM_033380.3 COL4A3 100.00 1 NM_000091.5 COL4A4 100.00 1 NM_000092.5 -
Angioedema (5 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments PLG 100.00 1 NM_000301.4 F12 100.00 1 NM_000505.3 SERPING1 100.00 1 NM_000062.3 KNG1 100.00 1 NM_001102416.3 ANGPT1 100.00 1 NM_001146.5 -
Atypical Hemolytic Uremic Syndrome (aHUS) and Complement disorders (16 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADAMTS13 100.00 1 NM_139025.4 C3 100.00 1 NM_000064.4 C5 100.00 1 NM_001735.3 CD46 100.00 1 NM_172351.3 CFB 100.00 1 NM_001710.6 CFH 100.00 1 NM_000186.4 CFHR1 100.00 1 NM_002113.2 CFHR2 99.67 1 NM_005666.4 CFHR3 100.00 1 NM_021023.6 CFHR4 100.00 1 NM_001201550.3 CFHR5 100.00 1 NM_030787.4 CFI 100.00 1 NM_001318057.2 DGKE 100.00 1 NM_003647.3 MMACHC 100.00 1 NM_015506.3 PLG 100.00 1 NM_000301.4 THBD 100.00 1 NM_000361.3 -
Autism (57 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADARB2 100.00 1 NM_018702.4 ADNP 100.00 1 NM_001282531.3 ANK2 100.00 1 NM_001148.6 ANKRD11 100.00 1 NM_013275.6 ARID1B 98.00 1 NM_001374828.1 BCKDK 100.00 1 NM_005881.4 CACNA1C 100.00 1 NM_000719.7 CHD3 100.00 1 NM_001005273.3 CHD7 100.00 1 NM_017780.4 CHD8 100.00 1 NM_001170629.2 CHRNA7 0.00 1 NM_000746.6 / Exons 1-4 (5-10 not covered) / % unknown CNTNAP2 100.00 1 NM_014141.6 CNTNAP4 100.00 1 NM_033401.5 DHCR7 100.00 1 NM_001360.3 DYRK1A 100.00 1 NM_001347721.2 FMR1 100.00 1 NM_002024.6 FOXP1 100.00 1 NM_032682.6 FOXP2 100.00 1 NM_014491.4 GRIN2A 100.00 1 NM_001134407.3 GRIN2B 100.00 1 XM_011520629.2 HDAC4 100.00 1 NM_006037.3 KATNAL2 100.00 1 NM_031303.3 KCNB1 100.00 1 NM_004975.4 MECP2 100.00 1 NM_001110792.2 and NM_004992.3 MEF2C 100.00 1 NM_002397.5 MTOR 100.00 1 NM_004958.4 NIPBL 100.00 1 NM_133433.4 NLGN1 100.00 1 NM_014932.5 NLGN3 100.00 1 NM_181303.2 NLGN4X 100.00 1 NM_181332.3 NLGN4Y 100.00 1 NM_014893.4 NRXN1 100.00 1 NM_001330078.2 NRXN2 100.00 1 NM_015080.4 NRXN3 100.00 1 NM_001330195.2 POGZ 100.00 1 NM_015100.4 PPP2R5D 100.00 1 NM_006245.4 PTCHD1 100.00 1 NM_173495.3 PTEN 100.00 1 NM_000314.8 RAI1 100.00 1 NM_030665.4 RIMS1 100.00 1 NM_014989.5 SCN1A 100.00 1 NM_001165963.3 SCN2A 100.00 1 NM_001040142.2 SCN8A 100.00 1 NM_001330260.2 SHANK1 100.00 1 NM_016148.5 SHANK2 100.00 1 NM_133266.5 SHANK3 100.00 1 NM_001372044.1 SMC1A 100.00 1 NM_006306.4 SMC3 100.00 1 NM_005445.4 SYNGAP1 100.00 1 NM_006772.3 TBL1XR1 100.00 1 NM_024665.7 TBR1 100.00 1 NM_006593.4 TCF20 100.00 1 NM_005650.3 TMLHE 100.00 1 NM_018196.4 TSC1 100.00 1 NM_000368.5 TSC2 100.00 1 NM_000548.5 UBE3A 100.00 1 NM_130839.5 VPS13B 100.00 1 NM_017890.4 - Breast/Ovarian cancer (12 genes) - IPG
-
Cakut (congenital anomalies of the kidney and urinary tract-1) (40 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACE 100.00 1 NM_000789.4 ACTG2 100.00 1 NM_001615.4 AGT 100.00 1 NM_000029.4 AGTR1 100.00 1 NM_031850.3 ANOS1 100.00 1 NM_000030.3 BMP4 100.00 1 NM_000216.4 BMP7 100.00 1 NM_001202.6 CDC5L 100.00 1 NM_001719.3 CHD1L 100.00 1 NM_001253.4 CHD7 100.00 1 NM_004284.6 DSTYK 100.00 1 NM_017780.4 EYA1 100.00 1 NM_015375.3 FGF20 100.00 1 NM_000503.6 FRAS1 100.00 1 NM_019851.3 FREM1 100.00 1 NM_025074.7 FREM2 100.00 1 NM_144966.5 GATA3 100.00 1 NM_207361.6 GLI3 100.00 1 NM_001002295.2 GREB1L 100.00 1 NM_000168.6 GRIP1 100.00 1 NM_001142966.2 HNF1B 100.00 1 NM_021150.4 ITGA8 100.00 1 NM_000458.4 NOTCH2 100.00 1 NM_003638.3 NPHP3 100.00 1 NM_024408.4 PAX2 100.00 1 NM_153240.5 PBX1 100.00 1 NM_000278.5 REN 100.00 1 NM_002585.4 RET 100.00 1 NM_000537.4 ROBO2 100.00 1 NM_020975.6 RPGRIP1L 100.00 1 NM_001128929.3 SALL1 100.00 1 NM_015272.5 SALL4 100.00 1 NM_002968.3 SIX1 100.00 1 NM_020436.5 SIX2 100.00 1 NM_005982.4 SIX5 100.00 1 NM_016932.5 SOX17 100.00 1 NM_175875.5 TBX18 100.00 1 NM_022454.4 UMOD 100.00 1 NM_001080508.3 UPK3A 100.00 1 NM_001278614.2 WNT4 100.00 1 NM_006953.4 -
Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (76 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADAMTS9 100.00 1 NM_182920.2 ALG8 100.00 1 NM_024079.5 ANKS6 100.00 1 NM_173551.5 ARL6 100.00 1 NM_001278293.3 BBIP1 100.00 1 NM_001195305.3 BBS1 100.00 1 NM_024649.5 BBS10 100.00 1 NM_024685.4 BBS12 100.00 1 NM_152618.3 BBS2 100.00 1 NM_031885.4 BBS4 100.00 1 NM_033028.5 BBS5 100.00 1 NM_152384.3 BBS7 100.00 1 NM_176824.3 BBS9 100.00 1 NM_198428.3 CDC73 100.00 1 NM_024529.5 CEP164 100.00 1 NM_014956.5 CEP290 100.00 1 NM_025114.4 CEP83 100.00 1 NM_016122.3 COL4A1 100.00 1 NM_001845.6 COL4A3 100.00 1 NM_000091.5 COL4A4 100.00 1 NM_000092.5 COL4A5 100.00 1 NM_033380.3 DCDC2 100.00 1 NM_016356.5 DNAJB11 100.00 1 NM_016306.5 DZIP1L 100.00 1 NM_173543.3 EYA1 100.00 1 NM_000503.6 FAN1 100.00 1 NM_014967.5 FH 100.00 1 NM_000143.4 FLCN 100.00 1 NM_144997.7 GANAB 100.00 1 NM_198334.3 GATA3 100.00 1 NM_001002295.2 GATM 100.00 1 NM_001482.3 GLIS2 100.00 1 NM_001318918.1 HNF1B 100.00 1 NM_000458.4 IFT172 100.00 1 NM_015662.3 IFT27 100.00 1 NM_001177701.3 INVS 100.00 1 NM_014425.5 IQCB1 100.00 1 NM_001023570.4 LRP5 100.00 1 NM_002335.4 LRP6 100.00 1 NM_002336.3 LZTFL1 100.00 1 NM_020347.4 MAPKBP1 100.00 1 NM_014994.3 MET 100.00 1 NM_001127500.3 MKKS 100.00 1 NM_018848.3 MKS1 100.00 1 NM_017777.4 NEK8 100.00 1 NM_178170.3 NOTCH2 100.00 1 NM_024408.4 NPHP1 100.00 1 NM_001128178.3 NPHP3 100.00 1 NM_153240.5 NPHP4 100.00 1 NM_015102.5 OFD1 100.00 1 NM_003611.3 PAX2 100.00 1 NM_000278.5 PKD1 100.00 1 NM_001009944.3 PKD2 100.00 1 NM_000297.4 PKHD1 100.00 1 NM_138694.4 PMM2 0.00 1 NM_000303.2 une seule position PRKCSH 100.00 1 NM_001289103.1 PTEN 100.00 1 NM_000314.8 REN 100.00 1 NM_000537.4 RPGRIP1L 100.00 1 NM_015272.5 SDCCAG8 100.00 1 NM_006642.5 SDHB 100.00 1 NM_003000.3 SDHD 100.00 1 NM_003002.4 SEC61A1 100.00 1 NM_013336.4 SEC63 100.00 1 NM_007214.5 TMEM67 100.00 1 NM_153704.6 TRIM32 100.00 1 NM_012210.3 TSC1 100.00 1 NM_000368.5 TSC2 100.00 1 NM_000548.5 TTC21B 100.00 1 NM_024753.5 TTC8 100.00 1 NM_001288781.1 UMOD 100.00 1 NM_001278614.2 VHL 100.00 1 NM_000551.4 WDPCP 100.00 1 NM_015910.7 WDR19 100.00 1 NM_025132.4 XPNPEP3 100.00 1 NM_022098.4 ZNF423 100.00 1 NM_015069.4 -
Ellis-van Creveld (2 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments EVC EVC2 -
Epilepsy, seizures (196 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 1 NM_001605.3 ACTB 100.00 1 NM_001101.5 ADSL 100.00 1 NM_000026.4 AKT3 100.00 1 NM_005465.7 ALDH7A1 100.00 1 NM_001182.5 ALG13 98.77 1 NM_001099922.3 ANKRD11 99.99 1 NM_013275.6 ARHGEF9 100.00 1 NM_001353921.2 ARID1B 98.38 1 NM_001374828.1 ARX 96.96 1 NM_139058.3 ASXL3 100.00 1 NM_030632.3 ATN1 100.00 1 NM_001940.4 ATP1A2 100.00 1 NM_000702.4 ATP1A3 100.00 1 NM_152296.5 ATP7A 100.00 1 NM_000052.7 ATRX 100.00 1 NM_000489.5 ATXN2 100.00 1 NM_001372574.1 BRAT1 100.00 1 NM_152743.4 BTD 100.00 1 NM_001370658.1 CACNA1A 100.00 1 NM_023035.3 CACNA1D 100.00 1 NM_001128840.3 CACNA1E 100.00 1 NM_001205293.3 CACNA2D2 100.00 1 NM_001174051.3 CAD 100.00 1 NM_004341.5 CAMK2A 100.00 1 NM_015981.4 CAMK2B 100.00 1 NM_001220.5 CASK 100.00 1 NM_003688.3 CDKL5 100.00 1 NM_001323289.2 CERT1 100.00 1 NM_001130105.1 CHD2 100.00 1 NM_001271.4 CHRNA2 100.00 1 NM_000742.4 CHRNA4 100.00 1 NM_000744.6 CHRNB2 100.00 1 NM_000748.3 CLN3 100.00 1 NM_001042432.2 CLN5 100.00 1 NM_006493.4 CLN6 100.00 1 NM_017882.3 CLTC 100.00 1 NM_004859.4 CNTNAP2 100.00 1 NM_014141.6 COL4A1 100.00 1 NM_001845.6 CSNK2B 100.00 1 NM_001320.7 CSTB 100.00 1 NM_000100.4 CTSA 100.00 1 NM_000308.4 CTSD 100.00 1 NM_001909.5 CTSF 100.00 1 NM_003793.4 CUL4B 100.00 1 NM_001079872.2 CYFIP2 100.00 1 NM_001037333.3 DCX 100.00 1 NM_001195553.2 DDC 100.00 1 NM_001082971.2 DDX3X 100.00 1 NM_001356.4 DEAF1 100.00 1 NM_021008.4 DEPDC5 100.00 1 NM_001242896.3 DHDDS 100.00 1 NM_205861.3 DNAJC5 100.00 1 NM_025219.3 DNM1 100.00 1 NM_004408.4 DOCK7 100.00 1 NM_001367561.1 DYNC1H1 100.00 1 NM_001376.5 DYRK1A 100.00 1 NM_001347721.2 EEF1A2 100.00 1 NM_001958.5 EHMT1 100.00 1 NM_024757.5 EPM2A 100.00 1 NM_005670.4 FGF12 100.00 1 NM_021032.4 FLNA 100.00 1 NM_001110556.2 FMR1 100.00 1 NM_002024.6 FOLR1 100.00 1 NM_016729.3 FOXG1 99.86 1 NM_005249.5 FOXP1 100.00 1 NM_032682.6 GABBR2 100.00 1 NM_005458.8 GABRA1 100.00 1 NM_001127644.2 GABRA2 100.00 1 NM_001330690.1 GABRA3 100.00 1 NM_000808.4 GABRA5 100.00 1 NM_000810.4 GABRB1 100.00 1 NM_000812.4 GABRB2 100.00 1 NM_001371727.1 GABRB3 100.00 1 NM_000814.6 GABRD 100.00 1 NM_000815.5 GABRG2 92.05 1 NM_198903.2 GAD1 100.00 1 NM_000817.3 GAD2 100.00 1 NM_001134366.2 GAMT 100.00 1 NM_000156.6 GATM 100.00 1 NM_001482.3 GBA 98.97 1 NM_000157.4 GLDC 100.00 1 NM_000170.3 GLI3 100.00 1 NM_000168.6 GNAO1 100.00 1 NM_020988.3 GNB1 100.00 1 NM_002074.5 GOSR2 100.00 1 NM_004287.5 GPAA1 100.00 1 NM_003801.4 GRIA3 100.00 1 NM_007325.5 GRIN1 100.00 1 NM_007327.4 GRIN2A 100.00 1 NM_001134407.3 GRIN2B 100.00 1 XM_011520629.2 GRIN2D 100.00 1 NM_000836.2 H3-3A 100.00 1 NM_002107.7 H3-3B 100.00 1 NM_005324.5 HECW2 100.00 1 NM_001348768.2 HIVEP2 100.00 1 NM_006734.4 HLCS 100.00 1 NM_000411.8 HNRNPU 100.00 1 NM_031844.3 HUWE1 100.00 1 NM_031407.7 IQSEC2 99.37 1 NM_001111125.3 JMJD1C 100.00 1 NM_032776.3 KANSL1 100.00 1 NM_001193466.2 KCNA1 100.00 1 NM_000217.3 KCNA2 100.00 1 NM_004974.4 KCNB1 100.00 1 NM_004975.4 KCNC1 100.00 1 NM_001112741.2 KCNH1 100.00 1 NM_172362.3 KCNJ10 100.00 1 NM_002241.5 KCNK4 100.00 1 NM_033310.3 KCNQ2 100.00 1 NM_172107.4 KCNQ3 100.00 1 NM_004519.4 KCNT1 100.00 1 NM_020822.3 KCNT2 100.00 1 NM_198503.5 KCTD7 100.00 1 NM_153033.4 KDM5C 100.00 1 NM_004187.5 KDM6A 100.00 1 NM_001291415.2 KIF1A 100.00 1 NM_001244008.1 KMT2D 100.00 1 NM_003482.3 KMT2E 100.00 1 NM_182931.3 KPTN 100.00 1 NM_007059.4 LGI1 100.00 1 NM_005097.4 LRP1 100.00 1 NM_002332.3 MAGI2 100.00 1 NM_012301.4 MBD5 100.00 1 NM_018328.4 MECP2 100.00 1 NM_001110792.2+NM_004992.3 MED12 100.00 1 NM_005120.3 MED13L 100.00 1 NM_015335.4 MEF2C 100.00 1 NM_002397.5 MFSD8 100.00 1 NM_001371596.2 MICAL1 100.00 1 NM_022765.4 MID1 100.00 1 NM_000381.4 MOCS1 100.00 1 NM_001358530.2 MTHFR 100.00 1 NM_005957.5 MTOR 100.00 1 NM_004958.4 NEDD4L 100.00 1 NM_001144967.3 NEU1 100.00 1 NM_000434.4 NEXMIF 100.00 1 NM_001008537.3 NF1 100.00 1 NM_001042492.3 NFIA 99.78 1 NM_001134673.4 NHLRC1 100.00 1 NM_198586.3 NLGN3 100.00 1 NM_181303.2 NPRL2 100.00 1 NM_006545.5 NPRL3 100.00 1 NM_001077350.3 NRXN1 100.00 1 NM_001330078.2 NTRK2 100.00 1 XM_017014751.2 NUS1 100.00 1 NM_138459.5 OPHN1 100.00 1 NM_002547.3 PACS1 100.00 1 NM_018026.4 PACS2 100.00 1 NM_001100913.3 PAFAH1B1 100.00 1 NM_000430.4 PANK2 100.00 1 NM_153638.3 PCDH19 100.00 1 NM_001184880.2 PHGDH 100.00 1 NM_006623.4 PIGA 100.00 1 NM_002641.3 PIGO 100.00 1 NM_032634.4 PIGQ 100.00 1 NM_004204.5 PIGS 100.00 1 NM_033198.4 PIGT 100.00 1 NM_015937.6 PIGU 100.00 1 NM_080476.4 PIGV 100.00 1 NM_017837.4 PIK3CA 100.00 1 NM_006218.4 PIK3R2 100.00 1 NM_005027.4 PLCB1 100.00 1 NM_015192.4 PLPBP 100.00 1 NM_007198.4 PLXNA1 100.00 1 NM_032242.3 PNKP 100.00 1 NM_007254.4 PNPO 100.00 1 NM_018129.4 POLG 100.00 1 NM_001126131.2 PPP2R1A 100.00 1 NM_014225.6 PPP2R5D 100.00 1 NM_006245.4 PPT1 100.00 1 NM_000310.4 PRICKLE1 100.00 1 NM_153026.3 PRIMA1 100.00 1 NM_178013.4 PRRT2 100.00 1 NM_145239.3 PSAT1 100.00 1 NM_058179.4 PTEN 100.00 1 NM_000314.8 PURA 100.00 1 NM_005859.5 QARS1 100.00 1 NM_005051.3 RELN 100.00 1 NM_005045.4 RLIM 100.00 1 NM_016120.4 SCAF4 100.00 1 NM_020706.2 SCARB2 100.00 1 NM_005506.4 SCN1A 100.00 1 NM_001165963.3 SCN1B 100.00 1 NM_001037.5+NM_199037.5 SCN2A 100.00 1 NM_001040142.2 SCN3A 100.00 1 NM_006922.4 SCN8A 100.00 1 NM_001330260.2 SCN9A 100.00 1 NM_001365536.1 SERPINI1 100.00 1 NM_001122752.1 SETBP1 99.99 1 NM_015559.3 SETD5 100.00 1 NM_001080517.3 SLC12A5 100.00 1 NM_020708.5 SLC19A3 100.00 1 NM_025243.4 SLC1A2 100.00 1 NM_004171.4 SLC25A22 100.00 1 NM_001191061.2 SLC2A1 100.00 1 NM_006516.3 SLC35A2 100.00 1 NM_005660.3 SLC6A1 100.00 1 NM_003042.4 SLC6A11 100.00 1 NM_014229.3 SLC6A8 100.00 1 NM_005629.4 SLC9A6 100.00 1 NM_001042537.1 SMARCA2 100.00 1 NM_003070.5 SMC1A 100.00 1 NM_006306.4 SMS 100.00 1 NM_004595.5 SNAP25 100.00 1 NM_130811.4 SPTAN1 100.00 1 NM_001130438.3 ST3GAL3 100.00 1 NM_006279.5 STX1B 100.00 1 NM_052874.5 STXBP1 100.00 1 NM_001032221.6 SYN1 100.00 1 NM_006950.3 SYNGAP1 100.00 1 NM_006772.3 SZT2 100.00 1 NM_001365999.1 TBC1D24 100.00 1 NM_001199107.2 TBL1XR1 100.00 1 NM_024665.7 TCF4 100.00 1 NM_001083962.2 TNK2 100.00 1 XM_005269270.3 TPP1 100.00 1 NM_000391.4 TRPM6 100.00 1 NM_017662.5 TRRAP 100.00 1 NM_001244580.1 TSC1 100.00 1 NM_000368.5 TSC2 100.00 1 NM_000548.5 TUBA1A 100.00 1 NM_006009.4 TWNK 100.00 1 NM_021830.5 UBE3A 100.00 1 NM_130839.5 UGP2 100.00 1 NM_006759.3 WASF1 100.00 1 NM_003931.3 WDR45 100.00 1 NM_001029896.2 WWOX 100.00 1 NM_016373.4 ZEB2 100.00 1 NM_014795.4 -
Hereditary predisposition to cancer (38 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APC 100.00 1 NM_000038.6 ATM 100.00 1 NM_000051.3 BAP1 100.00 1 NM_004656.4 BARD1 100.00 1 NM_000465.4 BMPR1A 100.00 1 NM_004329.3 BRCA1 100.00 1 NM_007294.4 BRCA2 100.00 1 NM_000059.3 BRIP1 100.00 1 NM_032043.3 CDH1 100.00 1 NM_004360.5 CDKN1B 100.00 1 NM_004064.4 CDKN2A 100.00 1 NM_001195132.1 CHEK2 100.00 1 NM_007194.4 EPCAM 100.00 1 NM_002354.3 GATA2 100.00 1 NM_032638.5 GREM1 100.00 1 NM_013372.7 MEN1 100.00 1 NM_001370259.2 MLH1 100.00 1 NM_000249.4 MSH2 100.00 1 NM_000251.3 MSH3 100.00 1 NM_002439.5 MSH6 100.00 1 NM_000179.3 MUTYH 100.00 1 NM_001128425.2 NBN 100.00 1 NM_002485.5 NTHL1 100.00 1 NM_002528.7 PALB2 100.00 1 NM_024675.4 PIK3CA 100.00 1 NM_006218.4 PMS2 100.00 1 NM_000535.7 POLD1 100.00 1 NM_002691.4 POLE 100.00 1 NM_006231.4 PTEN 100.00 1 NM_000314.8 RAD50 100.00 1 NM_005732.4 RAD51C 100.00 1 NM_058216.3 RAD51D 100.00 1 NM_002878.3 RPS20 100.00 1 NM_001146227.2 SCG5 100.00 1 NM_001144757.2 SMAD4 100.00 1 NM_005359.6 STK11 100.00 1 NM_000455.5 TP53 100.00 1 NM_000546.5 WWP1 100.00 1 NM_007013.4 -
Hypercholesterolemia (5 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APOB 100.00 1 NM_000384.3 APOE 100.00 1 NM_000041.4 LDLR 100.00 1 NM_000527.5 LDLRAP1 100.00 1 NM_015627.3 PCSK9 100.00 1 NM_174936.4 -
Hyperekplexia (6 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ARHGEF9 100.00 1 ATAD1 100.00 1 GLRA1 100.00 1 GLRB 100.00 1 GPHN 100.00 1 SLC6A5 100.00 1 -
Hypertrophic cardiomyopathy (20 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACTC1 100.00 1 NM_005159.5 ACTN2 100.00 1 NM_001103.3 ALPK3 100.00 1 NM_020778.5 CSRP3 100.00 1 NM_003476.5 GLA 100.00 1 NM_000169.3 JPH2 100.00 1 NM_020433.5 LAMP2 100.00 1 NM_002294.3 LMNA 100.00 1 NM_170707.4 MYBPC3 100.00 1 NM_000256.3 MYH6 100.00 1 NM_002471.3 MYH7 100.00 1 NM_000257.4 MYL2 100.00 1 NM_000432.4 MYL3 100.00 1 NM_000258.3 PLN 100.00 1 NM_002667.5 PRKAG2 100.00 1 NM_016203.4 TNNC1 100.00 1 NM_003280.3 TNNI3 100.00 1 NM_000363.5 TNNT2 100.00 1 NM_001276345.2 TPM1 100.00 1 NM_001018005.2 TTR 100.00 1 NM_000371.4 -
Inherited cardiac arrhytmia (18 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AKAP9 100.00 1 NM_005751.4 ANK2 100.00 1 NM_001148.6 CACNA1C 100.00 1 NM_000719.7 CALM1 100.00 1 NM_006888.6 CALM2 100.00 1 NM_001743.6 CASQ2 100.00 1 NM_001232.3 CAV3 100.00 1 NM_033337.3 KCNE1 100.00 1 NM_000219.6 KCNE2 100.00 1 NM_172201.1 KCNH2 100.00 1 NM_000238.4 KCNJ2 100.00 1 NM_000891.3 KCNJ5 100.00 1 NM_000890.5 KCNQ1 100.00 1 NM_000218.3 RYR2 100.00 1 NM_001035.3 SCN4B 100.00 1 NM_174934.3 SCN5A 100.00 1 NM_000335.5 SNTA1 100.00 1 NM_003098.3 TRDN 100.00 1 NM_006073.4 -
Intellectual Disability (104 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADNP 100.00 1 NM_001282531.3 ANKRD11 100.00 1 NM_013275.6 ARHGEF9 100.00 1 NM_001353921.2 ARID1A 100.00 1 NM_006015.6 ARID1B 98.83 1 NM_001374828.1 ARX 100.00 1 NM_139058.3 ASXL3 100.00 1 NM_030632.3 ATRX 100.00 1 NM_000489.5 BCL11A 100.00 1 NM_022893.4 BRAF 100.00 1 NM_001354609.2 BRWD3 100.00 1 NM_153252.5 CAMK2G 100.00 1 NM_172171.2 CAMTA1 100.00 1 NM_015215.4 CASK 100.00 1 NM_003688.3 CBL 100.00 1 NM_005188.4 CDKL5 100.00 1 NM_001323289.2 CERT1 100.00 1 NM_001130105.1 CHAMP1 100.00 1 NM_032436.4 CHD2 100.00 1 NM_001271.4 CNOT3 100.00 1 NM_014516.4 CREBBP 100.00 1 NM_004380.3 CTNNB1 100.00 1 NM_001904.4 CTSA 100.00 1 NM_000308.4 DDX3X 100.00 1 NM_001356.4 DHCR7 100.00 1 NM_001360.3 DNM1 100.00 1 NM_004408.4 DYRK1A 100.00 1 NM_001347721.2 EHMT1 100.00 1 NM_024757.5 EP300 100.00 1 NM_001429.4 EZH2 100.00 1 NM_004456.5 FGD1 100.00 1 NM_004463.3 FGFR3 100.00 1 NM_001163213.1 FMR1 100.00 1 NM_002024.6 FOXG1 100.00 1 NM_005249.5 FOXP1 100.00 1 NM_032682.6 GLI3 100.00 1 NM_000168.6 GNAO1 100.00 1 NM_020988.3 HACE1 100.00 1 NM_020771.4 HIVEP2 100.00 1 NM_006734.4 HNRNPK 100.00 1 NM_031263.4 HNRNPU 100.00 1 NM_031844.3 HPRT1 100.00 1 NM_000194.3 HRAS 100.00 1 NM_005343.4 HUWE1 100.00 1 NM_031407.7 IQSEC2 100.00 1 NM_001111125.3 ITPR1 100.00 1 NM_001168272.1 KANSL1 100.00 1 NM_001193466.2 KAT6A 100.00 1 NM_006766.5 KCNH1 100.00 1 NM_172362.3 KCNQ2 100.00 1 NM_172107.4 KDM6A 100.00 1 NM_001291415.2 KIF1A 100.00 1 NM_001244008.1 KMT2A 100.00 1 NM_001197104.2 KPTN 100.00 1 NM_007059.4 KRAS 100.00 1 NM_033360.4 LRP1 100.00 1 NM_002332.3 MECP2 100.00 1 NM_001110792.2 et NM_004992.3 MED12 100.00 1 NM_005120.3 MED13L 100.00 1 NM_015335.4 MID1 100.00 1 NM_000381.4 MTOR 100.00 1 NM_004958.4 NAA10 100.00 1 NM_003491.4 NALCN 100.00 1 NM_052867.4 NEXMIF 100.00 1 NM_001008537.3 NF1 100.00 1 NM_001042492.3 NFIX 100.00 1 NM_002501.4 NIPBL 100.00 1 NM_133433.4 NLGN1 100.00 1 NM_014932.5 NLGN3 100.00 1 NM_181303.2 NLGN4X 100.00 1 NM_181332.3 NSD1 100.00 1 NM_022455.4 PACS1 100.00 1 NM_018026.4 PCGF2 100.00 1 NM_007144.3 PIGT 100.00 1 NM_015937.6 POU1F1 100.00 1 NM_000306.4 PPP2R1A 100.00 1 NM_014225.6 PPP2R5D 100.00 1 NM_006245.4 PTCHD1 100.00 1 NM_173495.3 PURA 100.00 1 NM_005859.5 RAI1 100.00 1 NM_030665.4 SATB2 100.00 1 NM_001172509.2 SCN1A 100.00 1 NM_001165963.3 SCN2A 100.00 1 NM_001040142.2 SCN8A 100.00 1 NM_001330260.2 SETBP1 100.00 1 NM_015559.3 SETD5 100.00 1 NM_001080517.3 SHANK1 100.00 1 NM_016148.5 SHANK2 100.00 1 NM_133266.5 SLC2A1 100.00 1 NM_006516.3 SLC9A6 100.00 1 NM_001042537.1 SMARCA2 100.00 1 NM_003070.5 SMC1A 100.00 1 NM_006306.4 SMC3 100.00 1 NM_005445.4 SMS 100.00 1 NM_004595.5 SOX3 100.00 1 NM_005634.2 STXBP1 100.00 1 NM_001032221.6 SYNGAP1 100.00 1 NM_006772.3 TBR1 100.00 1 NM_006593.4 TCF4 100.00 1 NM_001083962.2 TUBB3 100.00 1 NM_006086.4 UBE3A 100.00 1 NM_130839.5 USP9X 100.00 1 NM_001039591.3 VPS13B 100.00 1 NM_017890.4 WDR45 100.00 1 NM_001029896.2 -
Kabuki (7 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments KMT2D 100.00 1 KDM6A 100.00 1 KMT2A 100.00 1 HNRNPK 100.00 1 RAP1A 100.00 1 RAP1B 100.00 1 PACS1 10.00 0 EXON 4 -
Lipodystrophy (2 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AGPAT2 BSCL2 -
Lipodystrophy and/or hyperinsulinism (27 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC8 100.00 1 no AGPAT2 100.00 1 no AKT2 100.00 1 no ALMS1 100.00 1 no BLM 100.00 1 no BSCL2 100.00 1 no CAV1 100.00 1 no CAVIN1 100.00 1 no CIDEC 100.00 1 no GCK 100.00 1 no GLUD1 100.00 1 no HADH 100.00 1 no INSR 100.00 1 no KCNJ11 100.00 1 no LIPE 100.00 1 no LMNA 100.00 1 no PCNT 100.00 1 no PCYT1A 100.00 1 no PIK3R1 100.00 1 no POLD1 100.00 1 no PPARG 100.00 1 no SLC16A1 100.00 1 no WRN 100.00 1 no ZMPSTE24 100.00 1 no -
MODY - Maturity onset Diabete of the Young (21 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC8 100.00 1 no GCK 100.00 1 no HNF1A 100.00 1 no HNF1B 100.00 1 no HNF4A 100.00 1 no INS 100.00 1 no KCNJ11 100.00 1 no APPL1 100.00 1 no BLK 100.00 1 no CEL 100.00 1 no GLUD1 100.00 1 no HADH 100.00 1 no KLF11 100.00 1 no INSR 100.00 1 no NEUROD1 100.00 1 no PAX4 100.00 1 no PDHX 100.00 1 no SLC16A1 100.00 1 no SLC16A12 100.00 1 no SLC5A2 100.00 1 no ZFP57 100.00 1 no -
Myopathy (332 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 1 NM_001605.3 ABHD5 100.00 1 NM_016006.6 ACAD9 100.00 1 NM_014049.5 ACADM 100.00 1 NM_000016.6 ACADVL 100.00 1 NM_000018.4 ACTA1 100.00 1 NM_001100.4 ACVR1 100.00 1 NM_001111067.4 ADSS1 100.00 1 NM_199165.2 AGK 100.00 1 NM_018238.4 AGL 100.00 1 NM_000642.3 AGRN 100.00 1 NM_198576.4 AIFM1 100.00 1 NM_004208.4 ALDOA 100.00 1 NM_184041.4 ALG13 98.00 1 NM_001099922.3 ALG14 100.00 1 NM_144988.4 ALG2 100.00 1 NM_033087.4 ALS2 100.00 1 NM_020919.4 AMPD1 100.00 1 NM_000036.2 ANG 100.00 1 NM_001145.4 ANO5 100.00 1 NM_213599.3 AR 100.00 1 NM_000044.6 ASAH1 100.00 1 NM_177924.5 ASCC1 100.00 1 NM_001198800.3 ATP2A1 100.00 1 NM_004320.6 ATP7A 100.00 1 NM_000052.7 ATXN2 100.00 1 NM_001372574.1 B3GALNT2 100.00 1 NM_152490.5 B4GAT1 100.00 1 NM_006876.3 BAG3 100.00 1 NM_004281.4 BCS1L 100.00 1 NM_001079866.2 BICD2 100.00 1 NM_001003800.2 BIN1 100.00 1 NM_139343.3 BSCL2 100.00 1 NM_001122955.3 BVES 100.00 1 NM_001199563.2 C1QBP 100.00 1 NM_001212.4 C9ORF72 100.00 0 NM_018325.5 CACNA1A 100.00 1 NM_023035.3 CACNA1S 100.00 1 NM_000069.3 CAPN3 100.00 1 NM_000070.3 CASQ1 100.00 1 NM_001231.5 CAV3 100.00 1 NM_033337.3 CAVIN1 100.00 1 NM_012232.6 CCDC78 100.00 1 NM_001031737.3 CFL2 100.00 1 NM_138638.5 CHAT 100.00 1 NM_020549.4 CHCHD10 100.00 1 NM_213720.3 CHKB 100.00 1 NM_005198.5 CHMP2B 100.00 1 NM_014043.4 CHRNA1 100.00 1 NM_000079.4 CHRNB1 100.00 1 NM_000747.3 CHRND 100.00 1 NM_000751.3 CHRNE 100.00 1 NM_000080.4 CHRNG 100.00 1 NM_005199.5 CHST14 100.00 1 NM_130468.4 CLCN1 100.00 1 NM_000083.3 CLN3 100.00 1 NM_001042432.2 CNBP 100.00 1 NM_003418.5 CNTN1 100.00 1 NM_001843.4 COL12A1 100.00 1 NM_004370.6 COL13A1 100.00 1 NM_001130103.2 COL6A1 100.00 1 NM_001848.3 COL6A2 100.00 1 NM_001849.4 COL6A3 100.00 1 NM_004369.4 COLQ 100.00 1 NM_005677.4 COQ9 100.00 1 NM_020312.4 COX10 100.00 1 NM_001303.4 COX15 100.00 1 NM_078470.6 COX20 100.00 1 NM_198076.6 COX6B1 100.00 1 NM_001863.5 COX8A 100.00 1 NM_004074.3 CPT2 100.00 1 NM_000098.3 CRPPA 100.00 1 NM_001101426.4 CRYAB 100.00 1 NM_001289808.2 DAG1 100.00 1 NM_001177634.2 DCTN1 100.00 1 NM_004082.4 DES 100.00 1 NM_001927.4 DGUOK 100.00 1 NM_080916.3 DMD 100.00 1 NM_004006.2 DMPK 100.00 1 NM_004409.5 DNA2 100.00 1 NM_001080449.3 DNAJB2 100.00 1 NM_006736.6 DNAJB6 100.00 1 NM_058246.4 DNM2 100.00 1 NM_001005361.3 DNMT3B 100.00 1 NM_006892.4 DOK7 100.00 1 NM_173660.5 DPAGT1 100.00 1 NM_001382.4 DPM1 99.00 1 NM_001317035.1 DPM2 100.00 1 NM_003863.4 DPM3 100.00 1 NM_153741.2 DYNC1H1 100.00 1 NM_001376.5 DYSF 100.00 1 NM_001130987.2 ECEL1 100.00 1 NM_004826.4 EMD 100.00 1 NM_000117.3 ENO3 100.00 1 NM_053013.4 ERBB3 100.00 1 NM_001982.4 ERBB4 100.00 1 NM_005235.3 ETFA 100.00 1 NM_000126.4 ETFB 100.00 1 NM_001985.3 ETFDH 100.00 1 NM_004453.4 EXOSC3 100.00 1 NM_016042.4 EXOSC8 100.00 1 NM_181503.3 FASTKD2 100.00 1 NM_001136193.2 FBN2 100.00 1 NM_001999.4 FBXL4 100.00 1 NM_001278716.2 FBXO38 100.00 1 NM_205836.3 FDX2 100.00 1 NM_001031734.4 FHL1 100.00 1 NM_001159699.2 FIG4 100.00 1 NM_014845.6 FKRP 100.00 1 NM_024301.5 FKTN 100.00 1 NM_006731.2 FLAD1 100.00 1 NM_025207.5 FLNC 100.00 1 NM_001458.4 FOXRED1 100.00 1 NM_017547.4 FUS 100.00 1 NM_004960.4 FXR1 100.00 1 NM_005087.4 GAA 100.00 1 NM_000152.5 GABRA3 100.00 1 NM_000808.4 GARS1 100.00 1 NM_002047.4 GBE1 100.00 1 NM_000158.4 GFER 100.00 1 NM_005262.3 GFPT1 100.00 1 NM_001244710.2 GLE1 100.00 1 NM_001003722.2 GLI3 100.00 1 NM_000168.6 GMPPB 100.00 1 NM_021971.4 GNE 100.00 1 NM_005476.7 GOLGA2 100.00 1 XM_005251932.1 GYG1 100.00 1 NM_004130.4 GYS1 100.00 1 NM_002103.5 HACD1 100.00 1 NM_014241.4 HADHA 100.00 1 NM_000182.5 HADHB 100.00 1 NM_000183.3 HEXB 100.00 1 NM_000521.4 HNRNPA1 100.00 1 NM_031157.4 HNRNPA2B1 100.00 1 NM_031243.3 HNRNPDL 100.00 1 NM_031372.3 HRAS 100.00 1 NM_005343.4 HSPB3 100.00 1 NM_006308.3 HSPB8 100.00 1 NM_014365.3 HSPG2 100.00 1 NM_005529.7 IBA57 100.00 1 NM_001010867.4 IGHMBP2 100.00 1 NM_002180.3 INPP5K 100.00 1 NM_016532.4 ISCU 100.00 1 NM_213595.3 ITGA7 100.00 1 NM_002206.3 KBTBD13 100.00 1 NM_001101362.2 KCNA1 100.00 1 NM_000217.3 KCNH2 100.00 1 NM_000238.4 KCNJ18 100.00 1 NM_001194958.2 KCNJ2 100.00 1 NM_000891.3 KCNQ1 100.00 1 NM_000218.3 KIF5A 100.00 1 NM_004984.4 KLHL40 100.00 1 NM_152393.4 KLHL41 100.00 1 NM_006063.3 KLHL9 100.00 1 NM_018847.4 KY 100.00 1 NM_178554.6 LAMA2 100.00 1 NM_000426.3 LAMA5 100.00 1 NM_005560.6 LAMB2 100.00 1 NM_002292.4 LAMP2 100.00 1 NM_002294.3 LARGE1 100.00 1 NM_004737.6 LDB3 98.00 1 NM_001171610.2 LDHA 100.00 1 NM_005566.4 LGI4 100.00 1 NM_139284.3 LIMS2 100.00 1 NM_017980.4 LMNA 100.00 1 NM_170707.4 LMOD3 100.00 1 NM_198271.5 LPIN1 100.00 1 NM_001349206.2 LRP4 100.00 1 NM_002334.4 LRPPRC 100.00 1 NM_133259.4 MAP3K20 100.00 1 NM_016653.3 MATR3 100.00 1 NM_018834.6 MCCC1 100.00 1 NM_020166.5 MCCC2 100.00 1 NM_022132.5 MEGF10 100.00 1 NM_001256545.2 MGME1 100.00 1 NM_052865.4 MPV17 100.00 1 NM_002437.5 MSTN 100.00 1 NM_005259.3 MTM1 100.00 1 NM_000252.3 MTMR14 100.00 1 NM_001077525.3 MUSK 100.00 1 NM_005592.4 MYBPC1 100.00 1 NM_002465.4 MYBPC3 100.00 1 NM_000256.3 MYH2 100.00 1 NM_017534.6 MYH3 100.00 1 NM_002470.4 MYH7 100.00 1 NM_000257.4 MYH8 100.00 1 NM_002472.3 MYL1 100.00 1 NM_079420.3 MYMK 100.00 1 NM_001080483.3 MYO18B 100.00 1 NM_032608.7 MYO9A 100.00 1 NM_006901.4 MYOT 100.00 1 NM_006790.3 MYPN 100.00 1 NM_032578.3 NDUFA1 100.00 1 NM_004541.4 NDUFA10 100.00 1 NM_004544.4 NDUFA11 100.00 1 NM_175614.5 NDUFA12 100.00 1 NM_018838.5 NDUFA2 100.00 1 NM_002488.5 NDUFA3 100.00 1 NM_004542.4 NDUFA9 100.00 1 NM_005002.5 NDUFAF1 100.00 1 NM_016013.4 NDUFAF2 100.00 1 NM_174889.5 NDUFAF5 100.00 1 NM_024120.5 NDUFAF6 100.00 1 NM_152416.4 NDUFS1 100.00 1 NM_005006.7 NDUFS2 100.00 1 NM_004550.4 NDUFS3 100.00 1 NM_004551.3 NDUFS4 100.00 1 NM_002495.4 NDUFS7 100.00 1 NM_024407.5 NDUFS8 100.00 1 NM_002496.4 NDUFV1 100.00 1 NM_007103.4 NDUFV2 100.00 1 NM_021074.5 NEB 88.00 1 NM_001271208.2 NEFH 100.00 1 NM_021076.4 NUBPL 100.00 1 NM_025152.3 OPTN 100.00 1 NM_001008212.2 ORAI1 100.00 1 NM_032790.3 PABPN1 100.00 1 NM_004643.3 PET100 100.00 1 NM_001171155.2 PFKM 100.00 1 NM_000289.6 PFN1 100.00 1 NM_005022.4 PGAM2 100.00 1 NM_000290.4 PGK1 100.00 1 NM_000291.4 PGM1 100.00 1 NM_002633.3 PHKA1 100.00 1 NM_002637.4 PHKB 100.00 1 NM_000293.3 PHKG1 100.00 1 NM_001258459.1 PIEZO2 100.00 1 NM_022068.3 PIP5K1C 100.00 1 NM_012398.3 PLEC 100.00 1 NM_201380.4 PLEKHG5 100.00 1 NM_001265592.1 PNPLA2 100.00 1 NM_020376.4 PNPLA8 100.00 1 NM_001256007.3 POGLUT1 100.00 1 NM_152305.3 POLG 100.00 1 NM_001126131.2 POLG2 100.00 1 NM_007215.4 POMGNT1 100.00 1 NM_001243766.1 POMGNT2 100.00 1 NM_032806.6 POMK 100.00 1 NM_032237.5 POMT1 100.00 1 NM_001077365.2 POMT2 100.00 1 NM_013382.5 PREPL 100.00 1 NM_001171613.2 PRKAG2 100.00 1 NM_016203.4 PRPH 100.00 1 NM_006262.4 PUS1 100.00 1 NM_025215.6 PYGM 100.00 1 NM_005609.4 PYROXD1 100.00 1 NM_024854.5 RAPSN 100.00 1 NM_005055.5 RBCK1 100.00 1 NM_031229.4 RBM7 100.00 1 NM_001286045.1 REEP1 100.00 1 NM_001371279.1 RNASEH1 100.00 1 NM_002936.5 RRM2B 100.00 1 NM_015713.5 RXYLT1 100.00 1 NM_014254.3 RYR1 100.00 1 NM_000540.3 SCN4A 100.00 1 NM_000334.4 SCO1 100.00 1 NM_004589.4 SCO2 100.00 1 NM_005138.3 SELENON 90.00 1 NM_020451.3 SETX 100.00 1 NM_015046.7 SGCA 100.00 1 NM_000023.4 SGCB 100.00 1 NM_000232.5 SGCD 100.00 1 XM_017009724.1 SGCG 100.00 1 NM_000231.2 SIGMAR1 100.00 1 NM_005866.4 SIL1 100.00 1 NM_022464.5 SLC18A3 100.00 1 NM_003055.3 SLC22A5 100.00 1 NM_003060.4 SLC25A20 100.00 1 NM_000387.6 SLC25A4 100.00 1 NM_001151.4 SLC52A2 100.00 1 NM_001363118.2 SLC52A3 100.00 1 NM_033409.4 SLC5A7 100.00 1 NM_021815.5 SMCHD1 100.00 1 NM_015295.3 SMN1 6.00 0 NM_000344.3+(exon 1 Ã 7 non couvert) SNAP25 100.00 1 NM_130811.4 SOD1 100.00 1 NM_000454.5 SPEG 100.00 1 NM_005876.5 SPG11 100.00 1 NM_025137.4 SPG7 100.00 1 NM_003119.4 SPTBN4 100.00 1 NM_020971.3 SQSTM1 100.00 1 NM_003900.5 STAC3 100.00 1 NM_145064.3 STIM1 100.00 1 NM_001277961.1 SUCLA2 100.00 1 NM_003850.2 SUCLG1 100.00 1 NM_003849.4 SURF1 100.00 1 NM_003172.4 SYNE1 100.00 1 NM_182961.4 SYNE2 100.00 1 NM_182914.2 SYT2 100.00 1 NM_177402.5 TACO1 100.00 1 NM_016360.4 TANGO2 100.00 1 NM_152906.7 TARDBP 100.00 1 NM_007375.4 TARS2 100.00 1 NM_025150.5 TAFAZZIN 100.00 1 NM_000116.5 TCAP 100.00 1 NM_003673.4 TIA1 100.00 1 NM_022173.4 TK2 100.00 1 NM_004614.5 TMEM43 100.00 1 NM_024334.3 TNNI2 100.00 1 NM_003282.4 TNNT1 100.00 1 NM_003283.6 TNNT3 100.00 1 NM_006757.4 TNPO3 100.00 1 NM_012470.3 TOP3A 100.00 1 NM_004618.5 TOR1AIP1 100.00 1 NM_001267578.1 TPM2 100.00 1 NM_003289.4 TPM3 100.00 1 NM_152263.4 TRAPPC11 100.00 1 NM_021942.6 TRIM32 100.00 1 NM_012210.3 TRIM54 100.00 1 NM_187841.3 TRIM63 100.00 1 NM_032588.3 TRIP4 100.00 1 NM_016213.5 TRMT5 100.00 1 NM_020810.3 TRPV4 100.00 1 NM_021625.5 TSFM 100.00 1 NM_005726.6 TTN 100.00 1 NM_001267550.2 TUBA4A 100.00 1 NM_006000.3 TWNK 100.00 1 NM_021830.5 TYMP 100.00 1 NM_001257989.1 UBA1 100.00 1 NM_003334.4 UBQLN2 100.00 1 NM_013444.3 VAMP1 100.00 1 NM_014231.5 VAPB 100.00 1 NM_004738.5 VARS1 100.00 1 NM_001167734.1 VCP 100.00 1 NM_007126.5 VMA21 100.00 1 NM_001363810.1 VPS33B 100.00 1 NM_018668.5 VRK1 100.00 1 NM_003384.3 WARS1 100.00 1 NM_004184.4 XK 100.00 1 NM_021083.4 YARS2 100.00 1 NM_001040436.3 ZC4H2 100.00 1 NM_018684.4 -
Nephrotic syndrome, FSGS, Alport syndrome (33 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACTN4 100.00 1 NM_004924.6 AMN 100.00 1 NM_030943.4 ANLN 100.00 1 NM_018685.5 APOA1 100.00 1 NM_000039.2 APOL1 100.00 1 NM_003661.4 ARHGAP24 100.00 1 NM_001025616.3 ARHGDIA 100.00 1 NM_004309.6 AVIL 100.00 1 NM_006576.3 B2M 100.00 1 NM_004048.3 C3 100.00 1 NM_000064.4 CD151 100.00 1 NM_004357.5 CD2AP 100.00 1 NM_012120.3 CLCN5 100.00 1 NM_001127898.4 COL4A3 100.00 1 NM_000091.5 COL4A4 100.00 1 NM_000092.5 COL4A5 100.00 1 NM_033380.3 COL4A6 100.00 1 NM_033641.4 COQ2 100.00 1 NM_001358921.2 COQ6 100.00 1 NM_182476.3 COQ8A 100.00 1 NM_020247.5 COQ8B 100.00 1 NM_024876.4 CRB2 100.00 1 NM_173689.7 CUBN 100.00 1 NM_001081.4 DGKE 100.00 1 NM_003647.3 EMP2 100.00 1 NM_001424.6 FGA 100.00 1 NM_021871.4 FN1 100.00 1 NM_212482.3 G6PC1 100.00 1 NM_000151.4 GLA 100.00 1 NM_000169.3 GSN 100.00 1 NM_000177.5 INF2 100.00 1 NM_022489.4 KANK2 100.00 1 NM_015493.6 LAMB2 100.00 1 NM_002292.4 LMX1B 100.00 1 NM_001174147.2 LRP2 100.00 1 NM_004525.3 LYZ 100.00 1 NM_000239.3 MAGI2 100.00 1 NM_012301.4 MYH9 100.00 1 NM_002473.6 MYO1E 100.00 1 NM_004998.4 NPHS1 100.00 1 NM_004646.3 NPHS2 100.00 1 NM_014625.4 NUP107 100.00 1 NM_020401.4 NUP133 100.00 1 NM_018230.3 NUP160 100.00 1 NM_015231.2 NUP205 100.00 1 NM_015135.3 NUP85 100.00 1 NM_024844.5 NUP93 100.00 1 NM_014669.5 OCRL 100.00 1 NM_000276.4 PAX2 100.00 1 NM_000278.5 PDSS2 100.00 1 NM_020381.4 PLCE1 100.00 1 NM_016341.4 PMM2 0.00 1 NM_000303.2 / only position Chr16(GRCh38):g.8797616 87976 PTPRO 100.00 1 NM_030667.3 SGPL1 100.00 1 NM_003901.4 SLC35A1 100.00 1 NM_006416.5 TBC1D8B 100.00 1 NM_017752.3 TRPC6 100.00 1 NM_004621.6 TTC21B 100.00 1 NM_024753.5 TTR 100.00 1 NM_000371.4 UMOD 100.00 1 NM_001278614.2 WDR73 100.00 1 NM_032856.5 WT1 100.00 1 NM_001198551.1 -
Neurodegeneration (37 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ANG 100.00 1 ENST00000336811 ANXA11 100.00 1 ENST00000438331 APP 100.00 1 ENST00000346798 ATP13A2 100.00 1 ENST00000326735 CHMP2B 100.00 1 ENST00000263780 DCTN1 100.00 1 ENST00000361874 ERBB4 100.00 1 ENST00000342788 FIG4 100.00 1 ENST00000230124 FUS 100.00 1 ENST00000254108 GBA 100.00 1 ENST00000327247 GRN 100.00 1 ENST00000053867 KIF5A 100.00 1 ENST00000455537 LRRK2 100.00 1 ENST00000298910 MAPT 100.00 1 ENST00000344290 MATR3 100.00 1 ENST00000394805ENST00000361059 NEFH 100.00 1 ENST00000310624 NEK1 100.00 1 ENST00000507142 NOTCH3 100.00 1 ENST00000263388 OPTN 100.00 1 ENST00000378748 PARK7 100.00 1 ENST00000493678 PFN1 100.00 1 ENST00000225655 PINK1 100.00 1 ENST00000321556 PRKN 100.00 1 ENST00000366898 PRNP 100.00 1 ENST00000379440 PRPH 100.00 1 ENST00000257860 PSEN1 100.00 1 ENST00000324501 PSEN2 100.00 1 ENST00000366783 SETX 100.00 1 ENST00000224140 SIGMAR1 100.00 1 ENST00000277010 SNCA 100.00 1 ENST00000336904 SOD1 100.00 1 ENST00000270142 SPG11 100.00 1 ENST00000261866 TARDBP 100.00 1 ENST00000240185 TUBA4A 100.00 1 ENST00000248437 UBQLN2 100.00 1 ENST00000338222 VAPB 100.00 1 ENST00000475243 VCP 100.00 1 ENST00000358901 -
Neuropathy (100 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 1 ENST00000261772 ABHD12 100.00 1 ENST00000376542 AIFM1 100.00 1 ENST00000287295 APTX 100.00 1 ENST00000436040 ARHGEF10 100.00 1 ENST00000518288 ATL1 100.00 1 ENST00000358385 ATP1A1 100.00 1 ENST00000537345 ATP7A 100.00 1 ENST00000341514 BICD2 100.00 1 ENST00000356884 BSCL2 100.00 1 ENST00000360796 MTRFR 100.00 1 ENST00000253233 COX6A1 100.00 1 ENST00000229379 CTDP1 100.00 1 ENST00000613122 DCTN1 100.00 1 ENST00000361874 DHTKD1 100.00 1 ENST00000263035 DNAJB2 100.00 1 ENST00000336576 DNM2 100.00 1 ENST00000389253 DNMT1 100.00 1 ENST00000359526 DST 100.00 1 ENST00000312431 DYNC1H1 100.00 1 ENST00000360184 EGR2 100.00 1 ENST00000242480 ELP1 100.00 1 ENST00000374647 FBLN5 100.00 1 ENST00000342058 FBXO38 100.00 1 ENST00000394370 FGD4 100.00 1 ENST00000525053 FIG4 100.00 1 ENST00000230124 GAN 100.00 1 ENST00000568107 GARS1 100.00 1 ENST00000389266 GDAP1 100.00 1 ENST00000220822 GJB1 100.00 1 ENST00000374022 GJB3 100.00 1 ENST00000373366 GNB4 100.00 1 ENST00000232564 HARS1 100.00 1 ENST00000504156 HINT1 100.00 1 ENST00000304043 HK1 100.00 1 ENST00000643399 HOXD10 100.00 1 ENST00000249501 HSPB1 100.00 1 ENST00000248553 HSPB3 100.00 1 ENST00000302005 HSPB8 100.00 1 ENST00000281938 IFRD1 99.00 1 ENST00000403825(exon 6 less covered) IGHMBP2 100.00 1 ENST00000255078 INF2 100.00 1 ENST00000392634 KARS1 100.00 1 ENST00000319410 KIF1A 100.00 1 ENST00000498729 KIF1B 100.00 1 ENST00000263934 KIF5A 100.00 1 ENST00000455537 LITAF 100.00 1 ENST00000571688 LMNA 100.00 1 ENST00000368300 LRSAM1 100.00 1 ENST00000323301 MARS1 100.00 1 ENST00000262027 MED25 100.00 1 ENST00000312865 MFN2 100.00 1 ENST00000235329 MME 100.00 1 ENST00000460393 MORC2 100.00 1 ENST00000397641 MPZ 100.00 1 ENST00000533357 MTMR2 100.00 1 ENST00000346299 MYH14 100.00 1 ENST00000642316 NAGLU 100.00 1 ENST00000225927 NDRG1 100.00 1 ENST00000414097 NEFH 100.00 1 ENST00000310624 NEFL 100.00 1 ENST00000610854 NGF 100.00 1 ENST00000369512 NTRK1 100.00 1 ENST00000524377 PDK3 100.00 1 ENST00000441463 PEX1 100.00 1 ENST00000248633 PEX7 100.00 1 ENST00000318471 PHYH 100.00 1 ENST00000263038 PLEKHG5 100.00 1 ENST00000537245 PMP22 100.00 1 ENST00000312280 POLG 100.00 1 ENST00000268124 PRDM12 99.00 1 ENST00000253008(exon 5 less covered) PRPS1 100.00 1 ENST00000372435 PRX 100.00 1 ENST00000324001 RAB7A 100.00 1 ENST00000265062 REEP1 100.00 1 ENST00000453231 RETREG1 100.00 1 ENST00000306320 SBF1 100.00 1 ENST00000380817 SBF2 100.00 1 ENST00000256190 SCN11A 100.00 1 ENST00000302328 SCN9A 100.00 1 ENST00000409672 SCO2 100.00 1 ENST00000543927+ ENST00000252785 SETX 100.00 1 ENST00000224140 SH3TC2 100.00 1 ENST00000515425 SLC12A6 100.00 1 ENST00000354181 SLC5A7 100.00 1 ENST00000264047 SOX10 100.00 1 ENST00000396884 SPG11 100.00 1 ENST00000261866 SPTLC1 100.00 1 ENST00000262554 SPTLC2 100.00 1 ENST00000216484 TDP1 100.00 1 ENST00000335725 TECPR2 100.00 1 ENST00000359520 TFG 100.00 1 ENST00000240851 TRIM2 100.00 1 ENST00000338700 TRPV4 100.00 1 ENST00000418703 TTR 100.00 1 ENST00000237014 TUBB3 100.00 1 ENST00000315491 TYMP 100.00 1 ENST00000395681 VCP 100.00 1 ENST00000358901 WNK1 100.00 1 ENST00000340908 YARS1 100.00 1 ENST00000373477 -
Obesity - 12 genes - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADCY3 100.00 1 no BDNF 100.00 1 no LEP 100.00 1 no LEPR 100.00 1 no MC3R 100.00 1 no MC4R 100.00 1 no NR0B2 100.00 1 no NTRK2 100.00 1 no PCSK1 100.00 1 no POMC 100.00 1 no SIM1 100.00 1 no UCP3 100.00 1 no -
Ovarian cancer / BRCA1/2 somatic
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments BRCA1 100.00 0 BRCA2 100.00 0 -
Overgrowth (24 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADARB2 100.00 1 NM_018702.4 AKT1 100.00 1 NM_001014431.2 AKT3 100.00 1 NM_005465.7 BRWD3 100.00 1 NM_153252.5 CDKN1C 100.00 1 NM_001362474.2 CHD3 100.00 1 NM_001005273.3 CHD8 100.00 1 NM_001170629.2 DIS3L2 100.00 1 NM_152383.4 DNMT3A 100.00 1 NM_175629.2 EED 100.00 1 NM_003797.5 EZH2 100.00 1 NM_004456.5 GPC3 100.00 1 NM_001164617.2 H1-4 100.00 1 NM_005321.3 KMT5B 100.00 1 NM_017635.5 MTOR 100.00 1 NM_004958.4 NFIX 100.00 1 NM_002501.4 NSD1 100.00 1 NM_022455.4 PDGFRB 100.00 1 NM_002609.4 PIK3CA 100.00 1 NM_006218.4 PPP2R5C 100.00 1 NM_001161725.1 PPP2R5D 100.00 1 NM_006245.4 PTEN 100.00 1 NM_000314.8 SETD2 100.00 1 NM_014159.6 TCF20 100.00 1 NM_005650.3 -
Pulmonary/Bronchiectasies (5 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments CFTR 100.00 1 NM_000492.4 SCNN1A 100.00 1 NM_001038.6 SCNN1B 100.00 1 NM_000336.3 SCNN1G 100.00 1 NM_001039.4 SERPINA1 100.00 1 NM_000295.5 -
Short Stature (46 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACAN 90.00 1 NM_001369268.1 ANKRD11 100.00 1 NM_013275.6 BRAF 100.00 1 NM_001354609.2 BTK 100.00 1 NM_000061.3 CBL 100.00 1 NM_005188.4 CCDC8 100.00 1 NM_032040.5 CREBBP 100.00 1 NM_004380.3 CUL7 100.00 1 NM_014780.5 DHCR7 100.00 1 NM_001360.3 DVL1 100.00 1 NM_001330311.2 EP300 100.00 1 NM_001429.4 FGD1 100.00 1 NM_004463.3 FGFR3 100.00 1 NM_001163213.1 GH1 100.00 1 NM_000515.5 GHR 100.00 1 NM_000163.5 GHRHR 100.00 1 NM_000823.4 GHSR 100.00 1 NM_198407.2 HRAS 100.00 1 NM_005343.4 IGF1 100.00 1 NM_000618.5 IGF1R 100.00 1 NM_000875.5 IGF2 100.00 1 NM_000612.6 IGFALS 100.00 1 NM_004970.3 KDM6A 100.00 1 NM_001291415.2 KMT2D 100.00 1 NM_003482.3 KRAS 100.00 1 NM_033360.4 NPPC 100.00 1 NM_024409.4 NPR2 100.00 1 NM_003995.3 NPR3 100.00 1 NM_001204375.2 NRAS 100.00 1 NM_002524.5 OBSL1 100.00 1 NM_015311.3 PIK3R1 100.00 1 NM_181523.3 POU1F1 100.00 1 NM_000306.4 PTPN11 100.00 1 NM_002834.5 RAF1 100.00 1 NM_001354689.3 RASA2 100.00 1 NM_006506.5 RIT1 100.00 1 NM_006912.6 ROR2 100.00 1 NM_004560.4 RPS6KA3 100.00 1 NM_004586.3 SHOC2 100.00 1 NM_007373.4 SHOX 100.00 1 NM_000451.3 SOS1 100.00 1 NM_005633.3 SOX3 100.00 1 NM_005634.2 SRCAP 100.00 1 NM_006662.3 STAT5B 100.00 1 NM_012448.4 TRIM37 100.00 1 NM_015294.6 WNT5A 100.00 1 NM_003392.4 -
Spastic Paraplegia (63 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ALS2 100.00 1 ENST00000264276 AMPD2 100.00 1 ENST00000256578 AP4B1 100.00 1 ENST00000369569 AP4E1 100.00 1 ENST00000261842 AP4M1 100.00 1 ENST00000359593 AP4S1 100.00 1 ENST00000216366 AP5Z1 100.00 1 ENST00000348624 ARL6IP1 100.00 1 ENST00000304414 ARSI 100.00 1 ENST00000328668 ATL1 100.00 1 ENST00000358385 B4GALNT1 100.00 1 ENST00000341156 BICD2 100.00 1 ENST00000356884 BSCL2 100.00 1 ENST00000360796 MTRFR 100.00 1 ENST00000253233 C19ORF12 100.00 1 ENST00000392278 CCT5 100.00 1 ENST00000280326 CYP2U1 100.00 1 ENST00000332884 CYP7B1 100.00 1 ENST00000310193 DDHD1 100.00 1 ENST00000323669 DDHD2 100.00 1 ENST00000397166 ENTPD1 100.00 1 ENST00000371207 ERLIN1 100.00 1 ENST00000421367 ERLIN2 100.00 1 ENST00000276461 FA2H 100.00 1 ENST00000219368 FLRT1 100.00 1 ENST00000246841 GAD1 100.00 1 ENST00000358196 GBA2 100.00 1 ENST00000378103 GJA1 100.00 1 ENST00000282561 GJC2 100.00 1 ENST00000366714 HSPD1 100.00 1 ENST00000388968 KIF1A 100.00 1 ENST00000498729 KIF1C 100.00 1 ENST00000320785 KIF5A 100.00 1 ENST00000455537 L1CAM 100.00 1 ENST00000370060 MAG 100.00 1 ENST00000392213 MARS1 100.00 1 ENST00000262027 NIPA1 100.00 1 ENST00000337435 NT5C2 100.00 1 ENST00000343289 PGAP1 100.00 1 ENST00000354764 PLP1 100.00 1 ENST00000612423 PNPLA6 100.00 1 ENST00000414982 RAB3GAP2 100.00 1 ENST00000358951 REEP1 100.00 1 ENST00000453231 REEP2 100.00 1 ENST00000378339 RTN2 100.00 1 ENST00000245923 SACS 100.00 1 ENST00000382292 SETX 100.00 1 ENST00000224140 SLC16A2 100.00 1 ENST00000587091 SLC33A1 100.00 1 ENST00000392845 SPART 100.00 1 ENST00000451493 SPAST 100.00 1 ENST00000315285 SPG11 100.00 1 ENST00000261866 SPG21 100.00 1 ENST00000204566 SPG7 100.00 1 ENST00000645818 TECPR2 100.00 1 ENST00000359520 TFG 100.00 1 ENST00000240851 USP8 100.00 1 ENST00000396444 VCP 100.00 1 ENST00000358901 VPS37A 100.00 1 ENST00000324849 WASHC5 100.00 1 ENST00000318410 WDR48 100.00 1 ENST00000302313 ZFR 100.00 1 ENST00000265069 ZFYVE26 100.00 1 ENST00000347230 -
Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 17) (6 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ATXN1 ATXN2 ATXN3 CACNA1A ATXN7 TBP -
Tubulopathy/Nephrolithiasis (gene panel) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADCY10 100.00 1 NM_018417.6 AGXT 100.00 1 NM_000029.4 ALDOB 100.00 1 NM_000030.3 ALPL 100.00 1 NM_000035.4 AP2S1 100.00 1 NM_000478.6 AQP2 100.00 1 NM_004069.6 ATP6V0A4 100.00 1 NM_000486.5 ATP6V1B1 100.00 1 NM_020632.3 ATP7B 100.00 1 NM_001692.4 AVPR2 100.00 1 NM_000053.4 BSND 100.00 1 NM_000054.6 CASR 100.00 1 NM_057176.3 CLCN5 100.00 1 NM_000388.4 CLCNKB 100.00 1 NM_001127898.4 CLDN10 100.00 1 NM_000085.5 CLDN16 100.00 1 NM_006984.5 CLDN19 100.00 1 NM_006580.3 CNNM2 100.00 1 NM_148960.3 CTNS 100.00 1 NM_017649.5 CUL3 100.00 1 NM_004937.3 CYP24A1 100.00 1 NM_003590.5 EGF 100.00 1 NM_000782.5 EGFR 100.00 1 NM_001963.6 EHHADH 100.00 1 NM_005228.5 FAH 100.00 1 NM_001966.4 FAN1 100.00 1 NM_000137.4 FGF23 100.00 1 NM_014967.5 FXYD2 100.00 1 NM_020638.3 G6PC1 100.00 1 NM_001680.5 GALT 100.00 1 NM_000151.4 GATM 100.00 1 NM_000155.4 GNA11 100.00 1 NM_001482.3 GRHPR 100.00 1 NM_002067.5 HNF1B 100.00 1 NM_012203.2 HOGA1 100.00 1 NM_000458.4 HSD11B2 100.00 1 NM_138413.4 KCNJ1 100.00 1 NM_000196.4 KCNJ10 100.00 1 NM_000220.6 KLHL3 100.00 1 NM_002241.5 MAGED2 100.00 1 NM_017415.3 NR3C2 100.00 1 NM_177433.3 OCRL 100.00 1 NM_000901.5 PCBD1 100.00 1 NM_000276.4 PHEX 100.00 1 NM_000281.4 REN 100.00 1 NM_000444.6 SCNN1A 100.00 1 NM_000537.4 SCNN1B 100.00 1 NM_001038.6 SCNN1G 100.00 1 NM_000336.3 SEC61A1 100.00 1 NM_001039.4 SLC12A1 100.00 1 NM_013336.4 SLC12A3 100.00 1 NM_000338.3 SLC2A2 100.00 1 NM_001126108.2 SLC34A1 100.00 1 NM_000340.2 SLC34A3 100.00 1 NM_003052.5 SLC3A1 100.00 1 NM_001177316.2 SLC4A1 100.00 1 NM_000341.4 SLC4A4 100.00 1 NM_000342.4 SLC5A2 100.00 1 NM_001098484.3 SLC7A9 100.00 1 NM_003041.4 SLC9A3R1 100.00 1 NM_014270.5 TRPM6 100.00 1 NM_004252.5 UMOD 100.00 1 NM_017662.5 VDR 100.00 1 NM_001278614.2 VIPAS39 100.00 1 NM_000376.3 VPS33B 100.00 1 NM_001193314.2 WNK1 100.00 1 NM_018668.5 WNK4 100.00 1 NM_018979.4 AGTR1 100.00 1 no APRT 100.00 1 no CA2 100.00 1 no CACNA1H 100.00 1 no CLCN2 100.00 1 no CLCNKA 100.00 1 no CYP11B1 100.00 1 no CYP17A1 100.00 1 no DMP1 100.00 1 no ENPP1 100.00 1 no FANCA 100.00 1 no FAM20A 100.00 1 no FOXI1 100.00 1 no HNF1A 100.00 1 no HNF4A 100.00 1 no HPRT1 100.00 1 no KCNJ16 100.00 1 no KCNJ5 100.00 1 no KL 100.00 1 no LAGE3 100.00 1 no LDHD 100.00 1 no LRP2 100.00 1 no MEN1 100.00 1 no MOCOS 100.00 1 no PRPS1 100.00 1 no SLC16A12 100.00 1 no SLC22A12 100.00 1 no SLC2A9 100.00 1 no SLC36A2 100.00 1 no SLC5A1 100.00 1 no SLC6A19 100.00 1 no SLC6A20 100.00 1 no WDR72 100.00 1 no WFS1 100.00 1 no XDH 100.00 1 no