Belgian Genetic Tests database- Laboratories
- Centrum Medische Genetica - UZ Brussel VUB
Centrum Medische Genetica - UZ Brussel VUB
| Name of the laboratory: |
Centrum Medische Genetica - UZ Brussel VUB
|
| Abbreviation: |
CMG-UZ Brussel
|
| Institute name: |
Universitair Ziekenhuis Brussel
|
| Abbreviation institute: |
UZ Brussel
|
| RIZIV number: |
82999039-996
|
| Address: |
Laarbeeklaan, 101 |
| Telephone: | |
| Fax: | |
| E-mail: |
cmg.laboratory@uzbrussel.be
|
| URL: | |
| EQA: |
2021
DNA Sequencing – NGS (vGermline)
EMQN
2016
DNA Sequencing – NGS (vGermline)
EMQN
2017
DNA Sequencing – NGS (vGermline)
EMQN
2018
DNA Sequencing – NGS (vGermline)
EMQN
2017
DNA Sequencing - Sanger
EMQN
2015
DNA Sequencing - Sanger
EMQN
2016
DNA Sequencing - Sanger
EMQN
2018
DNA Sequencing - Sanger
EMQN
2019
DNA Sequencing - Sanger
EMQN
2017
Somatic NGS mutation testing
EMQN
2018
Somatic NGS mutation testing
EMQN
|
| Created: |
31 Jul 2018 - 13:18
|
| Changed: |
14 Jul 2022 - 11:23
|
- Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics
- Achondroplasia (FGFR3 hot spot mutation - p.Gly380)
- Androgen insensitivity (AR gene)
- Antithrombine III deficiency (thrombophilia) (SERPINC1 gene)
- Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c)
- Beta-globin hemoglobinopathies, Hemoglobinopathy C (HbC) (HBB hot spot mutation - p.Glu6Lys)
- Beta-globin hemoglobinopathies, Sickle cell anemia (HbS) (HBB hot spot mutation - p.Glu6Val)
- Breast cancer, hereditary (gene panel)
- Cardiomyopathy, hereditary (gene panel)
- Chronic progressive external ophthalmoplegia (CPEO) (Full sequencing of mtDNA genome)
- Colon carcinoma (hereditary/familial) (gene panel)
- Combined pituitary hormone deficiency 1 (CPHD - POU1F1 gene)
- Combined pituitary hormone deficiency 2 (CPHD - PROP1 gene)
- Congenital malformation gene panel
- Congenital myotonia (Becker-Thomsen disease) (CLCN1 gene)
- Cystic Fibrosis / related disorders (CFTR gene 88 hot spot mutations / newborn screening 12 hot spot mutations)
- Dentatorubral pallidoluysian atrophy - ATN1 gene CAG repeat expansion
- Enzymatic dosage Chitotriosidase
- Enzymatic dosage Fabry disease
- Enzymatic dosage Gaucher disease
- Enzymatic dosage MPS1/Hurler syndrome
- Enzymatic dosage Pompe disease
- Epilepsy gene panel
- Fragile X syndrome/POF/FXTAS - FMR1 gene CGG repeat expansion
- Fructosemia (ALDOB gene)
- GM2-gangliosidosis / Tay-Sachs syndrome diagnostic (HEXA gene hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser))
- Gaucher disease diagnostic (GBA gene hot spot mutations - p.Asn409Ser; p.Leu483Pro; c.84dupG; c.115+1G>A; )
- Gaucher disease diagnostic (GBA gene sequencing)
- Globozoospermia (DPY19L2 gene)
- Hemochromatosis hereditary type 1 (HFE gene hot spot mutations - p.Cys282Tyr; p.His63Asp)
- Huntington disease - HTT gene CAG repeat expansion
- Hypocalciuric hypercalcemia, familial type I or Hypocalcemia or Hypoparathyroidism, familial isolated (CASR gene)
- Hypogonadotropic hypogonadism (33 genes)
- Hypokalemic periodic paralysis, type 1 (CACNA1S gene hot spot mutations)
- Incontinentia pigmenti (IKBKG gene)
- Kennedy disease / Spinal and bulbar muscular atrophy (SBMA) - AR gene 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)
- Leber hereditary optic neuropathy (LHON) – (DNAJC30 gene)
- Leigh / NARP Syndrome
- Leigh syndrome
- Lissencephaly (LIS1 gene)
- Lissencephaly (Tubulin alpha 1A gene)
- Lysosomal Storage Disease (gene panel)
- Macrozoospermia (AURKC gene)
- Malformations of cortical development (235 genes)
- Maternally inherited deafness
- Maternally-inherited diabetes and deafness / Mitochondrial myopathy with reversible cytochrome C oxidase deficiency / mitochondrial tRNA glutamic acid
- Medium chain acyl-CoA dehydrogenase deficiency (MCAD-ACADM gene)
- Metabolic disorders including disorders of glycosylation, peroxisomal disorders, organic acidurias, glycogenosis disorders, neurotransmitter disorders (213 genes)
- Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome
- Mitochondrial complex II deficiency
- Mitochondrial complex III deficiency / Bjornstad syndrome / Gracile syndrome
- Mitochondrial complex IV deficiency
- Mitochondrial complex V (ATP Synthase) deficiency
- Mitochondrial disorders (gene panel)
- Mitochondrial disorders, mitchondrial DNA based (Full sequencing of mtDNA genome)
- Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (full sequencing)
- Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (hot spot mutation - m.3243A>G)
- Mucolipidosis II and III
- Mucopolysaccharidosis (MPS) type I / Hurler-Scheie syndrome
- Mucopolysaccharidosis (MPS) type II / Hunter syndrome
- Mucopolysaccharidosis (MPS) type IIIA / Sanfilippo A
- Mucopolysaccharidosis (MPS) type IIIB, Sanfilippo B
- Mucopolysaccharidosis (MPS) type IVA, Morquio A syndrome
- Mucopolysaccharidosis (MPS) type IVB, Morquio B syndrome / GM1 gangliosidosis
- Mucopolysaccharidosis (MPS) type VII / SLY disease
- Mucopolysacharidosis type IIIa (N-sulfoglucosamine sulfohydrolase)
- Multiple congenital anomalies-hypotonia-seizures syndrome 1
- Myoadenylate deaminase deficiency (AMPD1 gene hot spot mutation - p.Gln12*)
- Myoclonic epilepsy associated with ragged-red fibers (MERFF) (full sequencing) (2nd tier)
- Myoclonic epilepsy associated with ragged-red fibers (MERFF) (hot spot mutation - m.8344A>G) (1st tier)
- Netherton syndrome (SPINK5 gene)
- Neuraminidase deficiency / Sialidosis
- Neurodegeneration with iron accumulation in brain 2A & 2B
- Neurodevelopmental disorders gene panel
- Neuromuscular disorders : congenital & distal myopathy, congenital muscle dystrophy / Limb-girdle muscular dystrophy / Rhabdomyolysis / Myopathy (with prominent contractures) / distal artrogryposis (gene panel)
- Niemann-Pick disease
- Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes
- Norrie disease (NDP gene)
- Obesitas, early onset (gene panel)
- Oculopharyngeal muscular dystrophy - PABPN1 gene GCN trinucleotide repeats
- Pearson Syndrome
- Periodic paralysis (myotonia) / Paramyotonia congenita (SCN4A gene)
- Polymicrogyria, asymmetric
- Polymicrogyria, bilateral perisylvian, frontoparietal
- Pompe disease, Glycogen storage disease II (GAA gene)
- Premature Ovarian Failure/Primary Ovarian Insufficiency (POF/POI) (32 genes)
- Primary cardiac arrhythmias (Atrial fibrillation / Brugada syndome / Catech. polymorphic ventricular tachycardia / Early repolaristion syndrome / Ideopathic ventricular fibrillation / Long QT syndrome / Sick sinus syndrome / Short QT syndrome) (gene pane)
- Progressive external ophthalmoplegia
- Pyruvate dehydrogenase deficiency / X-linked Leigh syndrome
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome (TANGO2 gene)
- Sandhoff disease
- Segawa syndrome (GCH1 gene)
- Segawa syndrome (TH gene)
- Septo-optic dysplasia (HESX1 gene)
- Skeletal dysplasia (gene panel)
- Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 (SMN1 & SMN2 genes)
- Spinocerebellar ataxia (type 8, 17) + Dentatorubral pallidoluysian atrophy - repeat expansion
- Spinocerebellar ataxia (types 1, 2, 3, 6, 7) - CAG repeat expansion
- Steinert myotonic dystrophy - DMPK gene CTG repeat expansion
- Subcortical band heterotopia, lissencephaly
- Thiamine-responsive encephalopathy
- Thrombophilia due to protein C deficiency (PROC gene)
- Thyroid disgenesis (38 genes)
- Thyroid hormone receptor resistance (THRB gene)
- V-maf Musculoaponeurotic fibrosarcoma oncogen homolog B
- Vas deferens, congenital bilateral aplasia of, X-linked (ADGRG2 gene)
- X-chromosome inactivation
- X-linked hydrocephalia / CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndrome (L1CAM gene)
- mtDNA depletion syndrome
- 3-hydroxy-3-methylglutaric aciduria
- 46,XX 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
- APC-related attenuated familial adenomatous polyposis
- ATTRV122I amyloidosis
- ATTRV30M amyloidosis
- Abacavir toxicity
- Achondroplasia
- Adenosine monophosphate deaminase deficiency
- Adult Krabbe disease
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- Adult-onset distal myopathy due to VCP mutation
- Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- Alpers-Huttenlocher syndrome
- Alpha-B crystallin-related late-onset myopathy
- Amish infantile epilepsy syndrome
- Amish nemaline myopathy
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis type 4
- Andersen-Tawil syndrome
- Argininosuccinic aciduria
- Ataxia-hypogonadism-choroidal dystrophy syndrome
- Athyreosis
- Atrial septal defect, ostium secundum type
- Atrial standstill
- Atypical hemolytic-uremic syndrome with H factor anomaly
- Autosomal dominant Charcot-Marie-Tooth disease type 2M
- Autosomal dominant Emery-Dreifuss muscular dystrophy
- Autosomal dominant adult-onset proximal spinal muscular atrophy
- Autosomal dominant centronuclear myopathy
- Autosomal dominant congenital benign spinal muscular atrophy
- Autosomal dominant dopa-responsive dystonia
- Autosomal dominant hypocalcemia
- Autosomal dominant limb-girdle muscular dystrophy type 1C
- Autosomal dominant progressive external ophthalmoplegia
- Autosomal recessive centronuclear myopathy
- Autosomal recessive dopa-responsive dystonia
- Autosomal recessive lower motor neuron disease with childhood onset
- Autosomal recessive multiple pterygium syndrome
- Autosomal recessive progressive external ophthalmoplegia
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Barth syndrome
- Bartter syndrome with hypocalcemia
- Becker muscular dystrophy
- Benign familial mesial temporal lobe epilepsy
- Bethlem myopathy
- Bilateral perisylvian polymicrogyria
- Björnstad syndrome
- Brain-lung-thyroid syndrome
- Brugada syndrome
- CHARGE syndrome
- CNTNAP2-related developmental and epileptic encephalopathy
- Cap myopathy
- Cardiomyopathy, hypertrophic, 16
- Cardiomyopathy, hypertrophic, 17
- Cardiomyopathy, hypertrophic, 8
- Carnitine palmitoyl transferase II deficiency, myopathic form
- Carvajal syndrome
- Catecholaminergic polymorphic ventricular tachycardia
- Cerebellar ataxia-hypogonadism syndrome
- Childhood-onset nemaline myopathy
- Chronic visceral acid sphingomyelinase deficiency
- Classic multiminicore myopathy
- Cobblestone lissencephaly without muscular or ocular involvement
- Combined oxidative phosphorylation defect type 8
- Combined pituitary hormone deficiencies, genetic forms
- Complete androgen insensitivity syndrome
- Congenital bilateral absence of vas deferens
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
- Congenital disorder of glycosylation
- Congenital fiber-type disproportion myopathy
- Congenital generalized hypercontractile muscle stiffness syndrome
- Congenital muscular dystrophy due to LMNA mutation
- Congenital muscular dystrophy with cerebellar involvement
- 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 muscular dystrophy, Ullrich type
- Congenital myasthenic syndromes with glycosylation defect
- Congenital myopathy with excess of thin filaments
- Congenital myopathy, Paradas type
- Costello syndrome
- Cushing syndrome due to macronodular adrenal hyperplasia
- Cystic fibrosis
- DK1-CDG
- DNAJB2-related Charcot-Marie-Tooth disease type 2
- DPAGT1-CDG
- DPM1-CDG
- DPM3-CDG
- DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Dentatorubral pallidoluysian atrophy
- Desmin-related myopathy with Mallory body-like inclusions
- Desminopathy
- Dihydropteridine reductase deficiency
- Dilated cardiomyopathy with ataxia
- Distal arthrogryposis type 5D
- 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 myopathy with anterior tibial onset
- Distal myopathy with posterior leg and anterior hand involvement
- Distal myopathy, Tateyama type
- Distal myopathy, Welander type
- Distal myotilinopathy
- Duchenne muscular dystrophy
- Early repolarization syndrome
- Early-onset myopathy with fatal cardiomyopathy
- Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
- Epidermolysis bullosa simplex with muscular dystrophy
- Erythrokeratodermia-cardiomyopathy syndrome
- Estrogen resistance syndrome
- FKRP-related limb-girdle muscular dystrophy R9
- FRAXE intellectual disability
- Fabry disease
- Familial adenomatous polyposis
- Familial atrial fibrillation
- Familial colorectal cancer Type X
- Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
- Familial gestational hyperthyroidism
- Familial hyperthyroidism due to mutations in TSH receptor
- Familial hypocalciuric hypercalcemia type 1
- Familial hypocalciuric hypercalcemia type 2
- Familial hypocalciuric hypercalcemia type 3
- 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 congenital asplenia
- Familial isolated dilated cardiomyopathy
- Familial isolated restrictive cardiomyopathy
- Familial long QT syndrome
- Familial male-limited precocious puberty
- Familial mesial temporal lobe epilepsy with febrile seizures
- Familial progressive cardiac conduction defect
- Familial short QT syndrome
- Familial sick sinus syndrome
- Familial thoracic aortic aneurysm and aortic dissection
- Familial thyroid dyshormonogenesis
- Farber disease
- Fatal infantile cytochrome C oxidase deficiency
- Fatal infantile hypertonic myofibrillar myopathy
- Fatal infantile lactic acidosis with methylmalonic aciduria
- Female infertility due to oocyte meiotic arrest
- Fetal Gaucher disease
- Fetal akinesia deformation sequence
- Fetal akinesia-cerebral and retinal hemorrhage syndrome
- Fragile X syndrome
- Fragile X-associated tremor/ataxia syndrome
- Friedreich ataxia
- Frontotemporal dementia with motor neuron disease
- GM1 gangliosidosis type 1
- GM1 gangliosidosis type 2
- GM1 gangliosidosis type 3
- GNE myopathy
- GRACILE syndrome
- GTP cyclohydrolase I deficiency
- Gaucher disease type 1
- Gaucher disease type 2
- Gaucher disease type 3
- Generalized juvenile polyposis/juvenile polyposis coli
- Generalized resistance to thyroid hormone
- Genetic recurrent myoglobinuria
- Genetic transient congenital hypothyroidism
- Glycogen storage disease due to LAMP-2 deficiency
- Glycogen storage disease due to acid maltase deficiency
- Glycogen storage disease due to acid maltase deficiency, infantile onset
- Glycogen storage disease due to acid maltase deficiency, late-onset
- Glycogen storage disease due to aldolase A deficiency
- Glycogen storage disease due to glycogen debranching enzyme deficiency
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
- Glycogen storage disease due to muscle beta-enolase deficiency
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency
- Glycogen storage disease due to muscle phosphofructokinase deficiency
- Glycogen storage disease due to muscle phosphorylase kinase deficiency
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Glycogen storage disease due to phosphoglycerate mutase deficiency
- Hemochromatosis type 1 (NON RARE IN EUROPE)
- Hemoglobin C disease
- Hereditary breast and ovarian cancer syndrome
- Hereditary breast cancer
- Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
- Hereditary fructose intolerance
- Hereditary mixed polyposis syndrome
- Hereditary motor and sensory neuropathy, Okinawa type
- Hereditary myopathy with lactic acidosis due to ISCU deficiency
- Hereditary nonpolyposis colorectal cancer
- Hereditary orotic aciduria
- Hereditary pheochromocytoma-paraganglioma
- Hereditary sensorimotor neuropathy with hyperelastic skin
- Hereditary thrombophilia due to congenital antithrombin deficiency
- Hot water reflex epilepsy
- Huntington disease
- Hurler syndrome
- Hurler-Scheie syndrome
- Hydrocephalus with stenosis of the aqueduct of Sylvius
- Hyperekplexia-epilepsy syndrome
- Hyperkalemic periodic paralysis
- Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
- Hypokalemic periodic paralysis
- Hypothyroidism due to TSH receptor mutations
- Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- Idiopathic central precocious puberty
- Idiopathic ventricular fibrillation, non Brugada type
- Incontinentia pigmenti
- Infantile Krabbe disease
- Infantile neuroaxonal dystrophy
- Infantile neurovisceral acid sphingomyelinase deficiency
- Infantile-onset X-linked spinal muscular atrophy
- Infantile-onset ascending hereditary spastic paralysis
- Intermediate nemaline myopathy
- Isolated ATP synthase deficiency
- Isolated Klippel-Feil syndrome
- Isolated complex III deficiency
- Isolated cytochrome C oxidase deficiency
- Isolated follicle stimulating hormone deficiency
- Isolated succinate-CoQ reductase deficiency
- Jervell and Lange-Nielsen syndrome
- Juvenile absence epilepsy
- Juvenile amyotrophic lateral sclerosis
- Juvenile myoclonic epilepsy
- Juvenile primary lateral sclerosis
- KLHL9-related early-onset distal myopathy
- Kallmann syndrome
- Kearns-Sayre syndrome
- Kennedy disease
- Laing early-onset distal myopathy
- Laminin subunit alpha 2-related congenital muscular dystrophy
- Late-infantile/juvenile Krabbe disease
- Late-onset distal myopathy, Markesbery-Griggs type
- Leber hereditary optic neuropathy
- Left ventricular noncompaction
- Leigh syndrome with cardiomyopathy
- Leigh syndrome with leukodystrophy
- Leigh syndrome with nephrotic syndrome
- Lethal multiple pterygium syndrome
- Leydig cell hypoplasia due to LHB deficiency
- Leydig cell hypoplasia due to complete LH resistance
- Leydig cell hypoplasia due to partial LH resistance
- Lipoid proteinosis
- Lissencephaly due to LIS1 mutation
- Lissencephaly due to TUBA1A mutation
- Lissencephaly syndrome, Norman-Roberts type
- Lissencephaly type 1 due to doublecortin gene mutation
- Lynch syndrome
- MELAS
- MERRF
- MUTYH-related attenuated familial adenomatous polyposis
- MYH7-related late-onset scapuloperoneal muscular dystrophy
- Machado-Joseph disease type 3
- Male infertility due to globozoospermia
- Male infertility due to large-headed multiflagellar polyploid spermatozoa
- Male infertility with azoospermia or oligozoospermia due to single gene mutation
- Maligant granulosa cell tumor of the ovary
- Malonic aciduria
- Marinesco-Sjögren syndrome
- Maternally-inherited diabetes and deafness
- Medium chain acyl-CoA dehydrogenase deficiency
- Megaconial congenital muscular dystrophy
- Metachromatic leukodystrophy, adult form
- Metachromatic leukodystrophy, juvenile form
- Metachromatic leukodystrophy, late infantile form
- Methylmalonic aciduria due to transcobalamin receptor defect
- Mevalonic aciduria
- Microcephaly-complex motor and sensory axonal neuropathy syndrome
- Microlissencephaly
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
- Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
- Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
- Mitochondrial DNA depletion syndrome, myopathic form
- Mitochondrial DNA-associated Leigh syndrome
- Mitochondrial DNA-related progressive external ophthalmoplegia
- Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
- Mitochondrial neurogastrointestinal encephalomyopathy
- Mitochondrial non-syndromic sensorineural deafness
- Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
- Mitochondrial trifunctional protein deficiency
- Miyoshi myopathy
- Mucolipidosis type II
- Mucolipidosis type III alpha/beta
- Mucolipidosis type III gamma
- Mucopolysaccharidosis type 2, attenuated form
- Mucopolysaccharidosis type 2, severe form
- Mucopolysaccharidosis type 4A
- Mucopolysaccharidosis type 4B
- Mucopolysaccharidosis type 7
- Multiple acyl-CoA dehydrogenase deficiency, mild type
- Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
- Multiple congenital anomalies-hypotonia-seizures syndrome
- Multiple mitochondrial dysfunctions syndrome type 1
- Multiple mitochondrial dysfunctions syndrome type 2
- Muscle filaminopathy
- Muscle-eye-brain disease
- Muscular dystrophy, Selcen type
- Myosclerosis
- NARP syndrome
- Navajo neurohepatopathy
- Naxos disease
- Neonatal severe primary hyperparathyroidism
- Netherton syndrome
- Neurogenic scapuloperoneal syndrome, Kaeser type
- Niemann-Pick disease type C, adult neurologic onset
- Niemann-Pick disease type C, juvenile neurologic onset
- Niemann-Pick disease type C, late infantile neurologic onset
- Niemann-Pick disease type C, severe early infantile neurologic onset
- Niemann-Pick disease type C, severe perinatal form
- Noonan syndrome
- Noonan syndrome with multiple lentigines
- Normosmic congenital hypogonadotropic hypogonadism
- Norrie disease
- Obesity due to SIM1 deficiency
- Obesity due to congenital leptin deficiency
- Obesity due to leptin receptor gene deficiency
- Obesity due to melanocortin 4 receptor deficiency
- Obesity due to pro-opiomelanocortin deficiency
- Obesity due to prohormone convertase I deficiency
- Oculopharyngeal muscular dystrophy
- Omenn syndrome
- Ovarian hyperstimulation syndrome
- Oxoglutaric aciduria
- PGM1-CDG
- Paramyotonia congenita of Von Eulenburg
- Partial androgen insensitivity syndrome
- Partial chromosome Y deletion
- Pearson syndrome
- Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- Peripheral resistance to thyroid hormones
- Peroxisomal acyl-CoA oxidase deficiency
- Perry syndrome
- Persistent Müllerian duct syndrome
- Pituitary resistance to thyroid hormone
- Pituitary stalk interruption syndrome
- Polyendocrine-polyneuropathy syndrome
- Polymicrogyria due to TUBB2B mutation
- Pontocerebellar hypoplasia type 1
- Postsynaptic congenital myasthenic syndromes
- Premature Ovarian Failure
- Presynaptic congenital myasthenic syndromes
- Primary dystonia, DYT27 type
- Progressive epilepsy-intellectual disability syndrome, Finnish type
- Progressive scapulohumeroperoneal distal myopathy
- Proximal myopathy with focal depletion of mitochondria
- Proximal spinal muscular atrophy type 1
- Proximal spinal muscular atrophy type 2
- Proximal spinal muscular atrophy type 3
- Proximal spinal muscular atrophy type 4
- Pseudohypoparathyroidism type 1A
- Pseudohypoparathyroidism type 1B
- Pseudohypoparathyroidism type 1C
- Pyruvate dehydrogenase E1-alpha deficiency
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
- Reducing body myopathy
- Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
- Rippling muscle disease
- Rolandic epilepsy-speech dyspraxia syndrome
- Romano-Ward syndrome
- Sandhoff disease, adult form
- Sandhoff disease, infantile form
- Sandhoff disease, juvenile form
- Sanfilippo syndrome type A
- Sanfilippo syndrome type B
- Sensorineural deafness with dilated cardiomyopathy
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
- Septo-optic dysplasia spectrum
- Severe congenital nemaline myopathy
- Severe hereditary thrombophilia due to congenital protein C deficiency
- Severe neurodegenerative syndrome with lipodystrophy
- Sheldon-Hall syndrome
- Sialidosis type 1
- Sickle cell anemia
- Spinal muscular atrophy with respiratory distress type 2
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- Spinocerebellar ataxia type 1
- Spinocerebellar ataxia type 10
- Spinocerebellar ataxia type 12
- Spinocerebellar ataxia type 17
- Spinocerebellar ataxia type 2
- Spinocerebellar ataxia type 6
- Spinocerebellar ataxia type 7
- Spinocerebellar ataxia type 8
- Steinert myotonic dystrophy
- Subcortical band heterotopia
- Symptomatic form of fragile X syndrome in female carriers
- Symptomatic form of hemochromatosis type 1
- Synaptic congenital myasthenic syndromes
- TMEM70-related mitochondrial encephalo-cardio-myopathy
- Tay-Sachs disease, B variant, adult form
- Tay-Sachs disease, B variant, infantile form
- Tay-Sachs disease, B variant, juvenile form
- Tay-Sachs disease, B1 variant
- Thiamine-responsive encephalopathy
- Thomsen and Becker disease
- Thyroid ectopia
- Thyroid hypoplasia
- Tibial muscular dystrophy
- Typical nemaline myopathy
- Urocanic aciduria
- Very long chain acyl-CoA dehydrogenase deficiency
- Vitamin B12-responsive methylmalonic acidemia type cblB
- Vocal cord and pharyngeal distal myopathy
- Walker-Warburg syndrome
- X-linked Emery-Dreifuss muscular dystrophy
- X-linked adrenal hypoplasia congenita
- X-linked centronuclear myopathy
- X-linked distal spinal muscular atrophy type 3
- X-linked lissencephaly with abnormal genitalia
- X-linked myopathy with postural muscle atrophy
- X-linked myotubular myopathy-abnormal genitalia syndrome
- X-linked scapuloperoneal muscular dystrophy
- Young adult-onset distal hereditary motor neuropathy
- Zebra body myopathy
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Extended Breast Cancer Panel (26 gene) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ATM 100.00 1 No comment BARD1 100.00 1 No comment BLM 100.00 1 No comment BRCA1 100.00 1 No comment BRCA2 100.00 1 No comment BRIP1 100.00 1 No comment CDH1 100.00 1 No comment CHEK2 100.00 1 No comment EPCAM 100.00 1 No comment ABRAXAS1 100.00 1 No comment MEN1 100.00 1 No comment MLH1 100.00 1 No comment MRE11 100.00 1 No comment MSH2 100.00 1 No comment MSH6 100.00 1 No comment MUTYH 100.00 1 No comment NBN 100.00 1 No comment PALB2 100.00 1 No comment PMS2 100.00 1 No comment PTEN 100.00 1 No comment RAD50 100.00 1 No comment RAD51C 100.00 1 No comment RAD51D 100.00 1 No comment STK11 100.00 1 No comment TP53 100.00 1 No comment XRCC2 100.00 1 No comment -
Cardiomyopathy, hereditary (208 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 100.00 0 No comment ACAD9 100.00 0 No comment ACADVL 98.89 0 No comment ACE 97.11 0 No comment ACTA1 100.00 0 No comment ACTC1 100.00 0 No comment ACTN2 100.00 0 No comment ADD3 100.00 0 No comment ADRB2 100.00 0 No comment AGXT 100.00 0 No comment AGTR1 100.00 0 No comment AKAP9 100.00 0 No comment ALPK3 98.02 0 No comment ANKRD1 100.00 0 No comment APOA1 99.97 0 No comment B2M 100.00 0 No comment BAG3 100.00 0 No comment BRAF 96.97 0 No comment CACNA1C 100.00 0 No comment CACNB2 100.00 0 No comment CALM1 100.00 0 No comment CALM2 100.00 0 No comment CALM3 99.99 0 No comment CALR3 100.00 0 No comment CASQ2 100.00 0 No comment CASZ1 95.56 0 No comment CAV3 100.00 0 No comment CAVIN4 100.00 0 No comment CBL 100.00 0 No comment CDH2 97.48 0 No comment CHRM2 100.00 0 No comment CMYA5 99.99 0 No comment CNBP 100.00 0 No comment COA5 100.00 0 No comment COA6 100.00 0 No comment COX10 100.00 0 No comment COX15 100.00 0 No comment CRYAB 100.00 0 No comment CSRP3 100.00 0 No comment CTF1 30.96 0 No comment CTNNA3 100.00 0 No comment DES 100.00 0 No comment DLG1 100.00 0 No comment DMD 100.00 0 No comment DNAJC19 100.00 0 No comment DNM1L 100.00 0 No comment DOLK 100.00 0 No comment DSC3 98.44 0 No comment DSG2 99.61 0 No comment DSP 100.00 0 No comment DTNA 100.00 0 No comment ECRG4 99.32 0 No comment ELAC2 99.99 0 No comment ELN 100.00 0 No comment EMD 99.84 0 No comment EYA4 100.00 0 No comment FBXO32 100.00 0 No comment CFH 100.00 0 No comment FHL2 100.00 0 No comment FHOD3 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNC 100.00 0 No comment FLT1 99.53 0 No comment FOXD4 100.00 0 No comment FXN 89.89 0 No comment GAA 100.00 0 No comment GATA4 80.69 0 No comment GATA5 97.28 0 No comment GATA6 81.11 0 No comment GATAD1 88.18 0 No comment GLA 100.00 0 No comment GTPBP3 100.00 0 No comment HACD1 95.46 0 No comment HADHB 100.00 0 No comment HAND1 100.00 0 No comment HCN4 92.35 0 No comment HIF1A 100.00 0 No comment HRAS 100.00 0 No comment HSPB6 99.65 0 No comment HSPB7 100.00 0 No comment ILK 100.00 0 No comment INS-IGF2 99.94 0 No comment ISL1 100.00 0 No comment JPH2 95.10 0 No comment JUP 100.00 0 No comment KARS1 100.00 0 No comment KAT2B 94.80 0 No comment KCND2 100.00 0 No comment KCNE1 100.00 0 No comment KCNH2 94.44 0 No comment KCNJ12 100.00 0 No comment KCNQ1 91.07 0 No comment KIF20A 100.00 0 No comment KLF10 100.00 0 No comment LAMA2 100.00 0 No comment LAMA4 100.00 0 No comment LAMP2 100.00 0 No comment LDB3 100.00 0 No comment LMNA 99.93 0 No comment LRRC10 100.00 0 No comment MAP2K1 100.00 0 No comment MAP2K2 99.98 0 No comment MIB1 100.00 0 No comment MIB2 99.31 0 No comment MRPL3 100.00 0 No comment MRPL44 100.00 0 No comment MTO1 95.75 0 No comment MYBPC3 100.00 0 No comment MYH15 100.00 0 No comment MYH6 100.00 0 No comment MYH7 100.00 0 No comment MYH7B 99.96 0 No comment MYL2 100.00 0 No comment MYL3 100.00 0 No comment MYLK2 100.00 0 No comment MYO6 100.00 0 No comment MYOM1 100.00 0 No comment MYOM3 100.00 0 No comment MYOZ1 100.00 0 No comment MYOZ2 100.00 0 No comment MYPN 100.00 0 No comment NAA10 96.03 0 No comment NCOA6 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFV2 100.00 0 No comment NEB 99.99 0 No comment NEBL 100.00 0 No comment NEXN 100.00 0 No comment NKX2-5 100.00 0 No comment NPPA 100.00 0 No comment NRAP 100.00 0 No comment OBSCN 99.26 0 No comment OBSL1 98.31 0 No comment MED12 100.00 0 No comment PDLIM3 100.00 0 No comment PKP2 99.87 0 No comment PLEC 99.82 0 No comment PLEKHM2 99.60 0 No comment PLN 100.00 0 No comment PPCS 100.00 0 No comment PRDM16 100.00 0 No comment PRKAG2 95.88 0 No comment PRNP 100.00 0 No comment PSEN1 100.00 0 No comment PSEN2 100.00 0 No comment PTEN 98.86 0 No comment PTPN11 98.80 0 No comment RAF1 100.00 0 No comment RANGRF 100.00 0 No comment RBM20 99.82 0 No comment RIT1 100.00 0 No comment RPSA 97.87 0 No comment RRAGC 99.99 0 No comment RTKN2 100.00 0 No comment RYR2 100.00 0 No comment S100A1 100.00 0 No comment SCN4B 100.00 0 No comment SCN5A 100.00 0 No comment SDHA 98.02 0 No comment SGCB 94.58 0 No comment SGCD 100.00 0 No comment SGCG 100.00 0 No comment SGK1 99.99 0 No comment SHOC2 100.00 0 No comment SLC12A1 100.00 0 No comment SLC22A5 100.00 0 No comment SLC25A3 100.00 0 No comment SLC25A4 99.09 0 No comment SMC1A 100.00 0 No comment SNTA1 84.25 0 No comment SOD2 100.00 0 No comment SOS1 100.00 0 No comment SYNE1 100.00 0 No comment SYNE2 100.00 0 No comment SYNM 92.59 0 No comment TAF1A 100.00 0 No comment TAX1BP3 100.00 0 No comment WWTR1 99.81 0 No comment TBX20 100.00 0 No comment TBX5 100.00 0 No comment TCAP 100.00 0 No comment TCF21 100.00 0 No comment TGFB3 100.00 0 No comment TJP1 99.14 0 No comment TK2 95.90 0 No comment TMED4 100.00 0 No comment TMEM43 100.00 0 No comment TMEM87B 99.37 0 No comment TMPO 99.87 0 No comment TNNI3 100.00 0 No comment TNNI3K 100.00 0 No comment TNNT2 100.00 0 No comment TNNT3 100.00 0 No comment TPM1 99.98 0 No comment TRIM54 99.66 0 No comment TRIM55 100.00 0 No comment TRIM63 100.00 0 No comment TRPM4 100.00 0 No comment TSFM 93.22 0 No comment TTN 100.00 0 No comment TTR 100.00 0 No comment TXNRD2 96.90 0 No comment VCL 100.00 0 No comment VEGFA 98.73 0 No comment YWHAE 98.69 0 No comment ZBTB17 100.00 0 No comment -
Colon carcinoma (hereditary/familial) (gene panel) (12 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APC 100.00 1 MLH1 100.00 1 MSH2 100.00 1 MSH6 100.00 1 MUTYH 100.00 1 PMS2 100.00 1 POLD1 100.00 1 POLE 100.00 1 PTEN 100.00 1 STK11 100.00 1 BRIP1 100.00 1 PMS1 100.00 1 -
Congenital malformation gene panel - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 100.00 0 No comment ABAT 100.00 0 No comment ABCC6 100.00 0 No comment ABCD1 99.93 0 No comment ABCD3 99.97 0 No comment ABL1 100.00 0 No comment ACAN 98.89 0 No comment ACO2 100.00 0 No comment ACTA1 100.00 0 No comment ACTB 100.00 0 No comment ACTG1 100.00 0 No comment ADAMTS10 99.88 0 No comment ADAMTS17 89.95 0 No comment ADAMTSL2 100.00 0 No comment ADAR 100.00 0 No comment ADGRG1 100.00 0 No comment ADGRG6 100.00 0 No comment ADSL 100.00 0 No comment AHI1 100.00 0 No comment AIMP1 100.00 0 No comment AIPL1 100.00 0 No comment AIRE 99.88 0 No comment AKR1C2 99.98 0 No comment AKT1 100.00 0 No comment AKT3 100.00 0 No comment ALDH1A3 99.83 0 No comment ALMS1 100.00 0 No comment ALPL 100.00 0 No comment ALX1 100.00 0 No comment ALX3 91.36 0 No comment ALX4 99.70 0 No comment AMER1 100.00 0 No comment AMT 99.94 0 No comment ANKRD11 100.00 0 No comment ANOS1 95.04 0 No comment ANTXR2 100.00 0 No comment AP4B1 100.00 0 No comment AR 99.29 0 No comment ARFGEF2 100.00 0 No comment ARHGAP31 100.00 0 No comment ARID1A 94.64 0 No comment ARID1B 92.99 0 No comment ARL13B 100.00 0 No comment ARL6 100.00 0 No comment ARVCF 100.00 0 No comment ARX 78.98 0 No comment ASNS 100.00 0 No comment ASPA 100.00 0 No comment ASPM 100.00 0 No comment ASS1 99.87 0 No comment ASXL1 99.91 0 No comment ATL1 100.00 0 No comment ATM 100.00 0 No comment ATP6V0A2 100.00 0 No comment ATP7A 100.00 0 No comment ATP8A2 99.93 0 No comment ANTXR1 100.00 0 No comment ATRX 100.00 0 No comment ATXN10 99.48 0 No comment B3GALNT2 85.88 0 No comment B3GALT6 56.12 0 No comment B3GAT3 95.56 0 No comment B3GLCT 94.89 0 No comment B4GALT1 100.00 0 No comment B4GAT1 100.00 0 No comment B9D1 100.00 0 No comment B9D2 100.00 0 No comment BBIP1 100.00 0 No comment BBS1 100.00 0 No comment BBS10 100.00 0 No comment BBS12 100.00 0 No comment BBS2 100.00 0 No comment BBS4 100.00 0 No comment BBS5 100.00 0 No comment BBS7 100.00 0 No comment BBS9 100.00 0 No comment BCOR 100.00 0 No comment BDNF 100.00 0 No comment BIN1 100.00 0 No comment BMP2 100.00 0 No comment BMP4 100.00 0 No comment BMPER 100.00 0 No comment BMPR1B 100.00 0 No comment BRAF 96.97 0 No comment BRIP1 100.00 0 No comment BSND 100.00 0 No comment BUB1 100.00 0 No comment BUB1B 100.00 0 No comment BUB3 100.00 0 No comment C12ORF57 100.00 0 No comment CACNA1A 98.78 0 No comment CASK 100.00 0 No comment CBL 100.00 0 No comment CC2D2A 98.16 0 No comment CCBE1 99.97 0 No comment CCDC28B 100.00 0 No comment CCM2 99.98 0 No comment CCNQ 84.41 0 No comment CD96 100.00 0 No comment CDC6 100.00 0 No comment CDH1 98.08 0 No comment CDKL5 100.00 0 No comment CDKN1C 62.25 0 No comment CDON 100.00 0 No comment CDT1 87.95 0 No comment CENPF 100.00 0 No comment CEP164 100.00 0 No comment CEP290 99.99 0 No comment CEP41 100.00 0 No comment CEP57 100.00 0 No comment CFTR 99.91 0 No comment CHAT 100.00 0 No comment CHD7 100.00 0 No comment CHMP1A 100.00 0 No comment CHN1 99.56 0 No comment CHRNA1 100.00 0 No comment CHRNB1 100.00 0 No comment CHRND 100.00 0 No comment CHRNE 100.00 0 No comment CHRNG 100.00 0 No comment CHST14 98.57 0 No comment CHST3 100.00 0 No comment CHSY1 91.67 0 No comment CHUK 99.76 0 No comment CKAP2L 100.00 0 No comment CNTN1 100.00 0 No comment COG4 100.00 0 No comment COL11A1 100.00 0 No comment COL11A2 99.14 0 No comment COL18A1 97.80 0 No comment COL1A1 100.00 0 No comment COL1A2 99.93 0 No comment COL2A1 100.00 0 No comment COL3A1 100.00 0 No comment COL4A1 98.71 0 No comment COL5A1 98.16 0 No comment COL5A2 100.00 0 No comment COL6A1 100.00 0 No comment COL6A2 100.00 0 No comment COL6A3 100.00 0 No comment COL7A1 100.00 0 No comment COL9A1 100.00 0 No comment COL9A2 100.00 0 No comment COLEC11 100.00 0 No comment COMT 100.00 0 No comment COX7B 99.88 0 No comment CPLANE1 100.00 0 No comment CPT2 98.71 0 No comment CRB1 100.00 0 No comment CREBBP 100.00 0 No comment CRH 100.00 0 No comment CRLF1 89.81 0 No comment CRPPA 95.75 0 No comment CRX 100.00 0 No comment CSPP1 100.00 0 No comment CTCF 100.00 0 No comment CTNS 100.00 0 No comment CTSA 100.00 0 No comment CUL7 99.99 0 No comment CXCR4 100.00 0 No comment CYP11B1 100.00 0 No comment CYP17A1 100.00 0 No comment CYP19A1 100.00 0 No comment CYP21A2 100.00 0 No comment CYP2U1 93.04 0 No comment DARS1 100.00 0 No comment DCHS1 99.64 0 No comment DCX 100.00 0 No comment DDHD2 100.00 0 No comment DDX59 100.00 0 No comment DHCR24 99.96 0 No comment DHCR7 100.00 0 No comment DHH 99.75 0 No comment DHODH 100.00 0 No comment DIS3L2 100.00 0 No comment DKC1 100.00 0 No comment DLL3 78.42 0 No comment DLX5 100.00 0 No comment DMD 100.00 0 No comment DMPK 99.97 0 No comment DNM2 99.95 0 No comment DOCK6 99.12 0 No comment DOK7 98.77 0 No comment DPYD 100.00 0 No comment DSP 100.00 0 No comment DUSP6 100.00 0 No comment DYM 100.00 0 No comment DYNC1H1 100.00 0 No comment DYNC2H1 100.00 0 No comment EARS2 100.00 0 No comment GLB1 100.00 0 No comment ECEL1 95.92 0 No comment EFNB1 100.00 0 No comment EFTUD2 100.00 0 No comment EGR2 100.00 0 No comment EHMT1 98.85 0 No comment EIF2AK3 95.52 0 No comment EIF4A3 100.00 0 No comment EMD 99.84 0 No comment EMG1 100.00 0 No comment EMX2 100.00 0 No comment EOGT 100.00 0 No comment EP300 100.00 0 No comment EPG5 100.00 0 No comment EPHX1 100.00 0 No comment ERBB3 100.00 0 No comment ERCC1 100.00 0 No comment ERCC2 100.00 0 No comment ERCC4 100.00 0 No comment ERCC5 100.00 0 No comment ERCC6 100.00 0 No comment ERLIN2 100.00 0 No comment ESCO2 100.00 0 No comment EVC 94.45 0 No comment EVC2 99.55 0 No comment EYA1 100.00 0 No comment EZH2 100.00 0 No comment FA2H 92.06 0 No comment FAM111A 100.00 0 No comment FAM20C 92.71 0 No comment FANCA 99.70 0 No comment FANCB 100.00 0 No comment FANCC 100.00 0 No comment FANCD2 100.00 0 No comment FANCE 91.17 0 No comment FANCF 100.00 0 No comment FANCG 100.00 0 No comment FANCI 100.00 0 No comment FANCL 100.00 0 No comment FANCM 100.00 0 No comment FAT4 100.00 0 No comment FBN1 100.00 0 No comment FBN2 100.00 0 No comment FBXL4 100.00 0 No comment FGD1 99.39 0 No comment FGF10 100.00 0 No comment FGF17 100.00 0 No comment FGF8 94.82 0 No comment FGF9 100.00 0 No comment FGFR1 100.00 0 No comment FGFR2 100.00 0 No comment FGFR3 99.26 0 No comment FH 100.00 0 No comment FIG4 100.00 0 No comment FKBP14 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNA 100.00 0 No comment FLNB 100.00 0 No comment FLRT3 100.00 0 No comment FLT4 98.20 0 No comment FLVCR2 100.00 0 No comment FOXC1 62.57 0 No comment FOXC2 72.63 0 No comment FOXE1 60.48 0 No comment FOXG1 85.88 0 No comment FRAS1 100.00 0 No comment FREM1 100.00 0 No comment FREM2 100.00 0 No comment FTO 100.00 0 No comment FUZ 100.00 0 No comment G6PC3 100.00 0 No comment GAA 100.00 0 No comment GATA1 100.00 0 No comment GATA4 80.69 0 No comment GATA6 81.11 0 No comment GBA 100.00 0 No comment GBA2 100.00 0 No comment GBE1 100.00 0 No comment GCSH 76.04 0 No comment GDF1 58.25 0 No comment GDF3 100.00 0 No comment GDF5 100.00 0 No comment GDF6 93.56 0 No comment GFAP 100.00 0 No comment GFM1 100.00 0 No comment GJA1 100.00 0 No comment GJB2 98.23 0 No comment GJC2 81.91 0 No comment GLDC 96.53 0 No comment GLE1 100.00 0 No comment GLI2 95.11 0 No comment GLI3 100.00 0 No comment GLUL 100.00 0 No comment GMPPB 100.00 0 No comment GNAI3 100.00 0 No comment GNAO1 100.00 0 No comment GNPTAB 100.00 0 No comment GNPTG 94.69 0 No comment GP1BB 25.16 0 No comment GPC3 100.00 0 No comment GPC6 100.00 0 No comment GPI 100.00 0 No comment GPSM2 100.00 0 No comment GRHL3 100.00 0 No comment GRIP1 100.00 0 No comment GRM1 100.00 0 No comment GUCY2D 99.13 0 No comment GUSB 100.00 0 No comment H19 100.00 0 No comment HADHA 100.00 0 No comment HADHB 100.00 0 No comment HCCS 100.00 0 No comment HDAC8 100.00 0 No comment HES7 99.67 0 No comment HESX1 100.00 0 No comment HIBCH 100.00 0 No comment HIRA 99.90 0 No comment HOXA11 99.40 0 No comment HOXA13 73.35 0 No comment HOXA2 99.99 0 No comment HOXD13 80.52 0 No comment HPGD 99.99 0 No comment HRAS 100.00 0 No comment HS6ST1 98.52 0 No comment HSD17B3 100.00 0 No comment HSD17B4 100.00 0 No comment HSPG2 99.43 0 No comment HYAL1 100.00 0 No comment HYLS1 100.00 0 No comment IBA57 87.89 0 No comment CILK1 100.00 0 No comment IDS 100.00 0 No comment IDUA 88.67 0 No comment IER3IP1 99.93 0 No comment IFIH1 100.00 0 No comment IFT172 100.00 0 No comment IFT27 100.00 0 No comment IFT80 100.00 0 No comment IFT88 99.71 0 No comment IGBP1 100.00 0 No comment IGHMBP2 100.00 0 No comment IHH 99.88 0 No comment IKBKG 99.74 0 No comment IL10 100.00 0 No comment IL17RD 98.31 0 No comment IMPDH1 97.72 0 No comment INPP5E 99.54 0 No comment INSR 97.31 0 No comment IQCB1 100.00 0 No comment IRF6 100.00 0 No comment ITGA6 100.00 0 No comment ITGA8 99.96 0 No comment ITGB4 98.41 0 No comment ITPR1 100.00 0 No comment JAG1 99.66 0 No comment JAM3 100.00 0 No comment JUP 100.00 0 No comment KANSL1 100.00 0 No comment KAT6B 100.00 0 No comment KCNA1 100.00 0 No comment KCNJ13 100.00 0 No comment KCNJ2 100.00 0 No comment KCNK9 100.00 0 No comment KCNQ1OT1 0.55 0 No comment KCNQ2 99.98 0 No comment KCNT1 99.74 0 No comment KCTD1 92.53 0 No comment KCTD7 97.35 0 No comment KDM6A 100.00 0 No comment KIF14 100.00 0 No comment KIF1A 99.90 0 No comment KIFBP 100.00 0 No comment KIF2A 98.88 0 No comment KIF5C 100.00 0 No comment KIF7 96.94 0 No comment KISS1R 94.58 0 No comment KMT2D 100.00 0 No comment KRAS 100.00 0 No comment L1CAM 100.00 0 No comment L2HGDH 99.96 0 No comment LAMA2 100.00 0 No comment LAMB1 100.00 0 No comment LAMC3 97.51 0 No comment LARGE1 100.00 0 No comment LBR 100.00 0 No comment LCA5 100.00 0 No comment LEMD3 100.00 0 No comment LFNG 82.55 0 No comment LHB 97.18 0 No comment LHX3 94.36 0 No comment LHX4 100.00 0 No comment LIFR 100.00 0 No comment LMBR1 100.00 0 No comment LMNA 99.93 0 No comment LMNB1 97.46 0 No comment LMX1B 99.99 0 No comment LRAT 100.00 0 No comment LRP2 99.96 0 No comment CORIN 98.90 0 No comment LZTFL1 100.00 0 No comment MAP2K1 100.00 0 No comment MAP2K2 99.98 0 No comment MAP3K1 92.79 0 No comment MASP1 100.00 0 No comment MBTPS2 100.00 0 No comment MCOLN1 97.27 0 No comment MCPH1 100.00 0 No comment MED12 99.96 0 No comment MEF2C 100.00 0 No comment MEGF10 100.00 0 No comment MEOX1 100.00 0 No comment MESP2 100.00 0 No comment MFRP 100.00 0 No comment MGP 100.00 0 No comment MID1 100.00 0 No comment MIPOL1 100.00 0 No comment MKKS 100.00 0 No comment MKS1 100.00 0 No comment MLH1 100.00 0 No comment MOCS1 99.95 0 No comment MOCS2 100.00 0 No comment MPL 100.00 0 No comment MPZ 100.00 0 No comment MRPS16 100.00 0 No comment MRPS22 100.00 0 No comment MSH2 100.00 0 No comment MSH6 100.00 0 No comment MSX1 97.41 0 No comment MSX2 100.00 0 No comment MTM1 100.00 0 No comment MUSK 100.00 0 No comment MVK 100.00 0 No comment MYBPC1 100.00 0 No comment MYH2 100.00 0 No comment MYH3 100.00 0 No comment MYH8 100.00 0 No comment MYOD1 98.47 0 No comment NAA10 96.03 0 No comment NBN 100.00 0 No comment NDE1 100.00 0 No comment NEB 99.99 0 No comment NECTIN1 100.00 0 No comment NEK1 100.00 0 No comment NEXMIF 100.00 0 No comment NF1 99.95 0 No comment NFIX 97.15 0 No comment NIN 100.00 0 No comment NIPBL 99.98 0 No comment NKX2-5 100.00 0 No comment NMNAT1 100.00 0 No comment NODAL 99.99 0 No comment NOG 100.00 0 No comment NOTCH2 99.76 0 No comment NPC1 98.40 0 No comment NPC2 100.00 0 No comment NPHP1 100.00 0 No comment NPHP3 99.87 0 No comment NPRL2 100.00 0 No comment NR0B1 100.00 0 No comment NR5A1 100.00 0 No comment NRAS 100.00 0 No comment NSD1 100.00 0 No comment NSDHL 100.00 0 No comment NSMF 95.23 0 No comment NT5C2 100.00 0 No comment OBSL1 98.31 0 No comment OCLN 100.00 0 No comment OCRL 99.77 0 No comment OFD1 99.88 0 No comment OPHN1 100.00 0 No comment SLC25A15 100.00 0 No comment ORC4 100.00 0 No comment ORC6 100.00 0 No comment OTX2 100.00 0 No comment PAFAH1B1 100.00 0 No comment PALB2 100.00 0 No comment PAX2 99.80 0 No comment PAX3 100.00 0 No comment PAX6 100.00 0 No comment PCNT 100.00 0 No comment PDE4D 98.77 0 No comment PDE6D 100.00 0 No comment PDGFB 99.77 0 No comment PDGFRB 100.00 0 No comment PDHA1 98.17 0 No comment PDHB 100.00 0 No comment PDHX 99.87 0 No comment PDYN 100.00 0 No comment PEX1 100.00 0 No comment PEX10 88.47 0 No comment PEX11B 100.00 0 No comment PEX12 100.00 0 No comment PEX13 100.00 0 No comment PEX14 100.00 0 No comment PEX16 100.00 0 No comment PEX19 100.00 0 No comment PEX2 100.00 0 No comment PEX26 100.00 0 No comment PEX3 100.00 0 No comment PEX5 100.00 0 No comment PEX6 98.56 0 No comment PEX7 91.13 0 No comment PFKM 100.00 0 No comment PGM1 100.00 0 No comment PHF6 100.00 0 No comment PHF8 100.00 0 No comment PIGA 100.00 0 No comment PIGL 100.00 0 No comment PIGV 100.00 0 No comment PIK3CA 100.00 0 No comment PIK3R2 89.19 0 No comment PIP5K1C 95.60 0 No comment PITX1 98.27 0 No comment PKHD1 100.00 0 No comment PLCB4 100.00 0 No comment PLEC 99.82 0 No comment PLK4 100.00 0 No comment PLOD1 99.91 0 No comment PLOD3 100.00 0 No comment PLP1 100.00 0 No comment PMM2 100.00 0 No comment PMP22 100.00 0 No comment PMS2 99.97 0 No comment PNKP 100.00 0 No comment POLR1C 100.00 0 No comment POLR1D 100.00 0 No comment POLR3A 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PORCN 100.00 0 No comment POU1F1 100.00 0 No comment PQBP1 100.00 0 No comment PRDM5 100.00 0 No comment PRG4 100.00 0 No comment PRKAR1A 100.00 0 No comment PROK2 98.51 0 No comment PROKR2 100.00 0 No comment PROP1 100.00 0 No comment PRRX1 100.00 0 No comment PRSS56 98.00 0 No comment PRX 100.00 0 No comment PSAP 100.00 0 No comment PSAT1 100.00 0 No comment PTCH1 98.48 0 No comment PTCH2 100.00 0 No comment PTDSS1 100.00 0 No comment PTEN 98.86 0 No comment PTH1R 99.01 0 No comment PTPN11 98.80 0 No comment PYCR1 100.00 0 No comment RAB18 100.00 0 No comment RAB23 100.00 0 No comment RAB3GAP1 100.00 0 No comment RAB3GAP2 100.00 0 No comment RAB40AL 100.00 0 No comment RAD21 100.00 0 No comment RAD51C 100.00 0 No comment RAF1 100.00 0 No comment RAI1 96.06 0 No comment RAPSN 100.00 0 No comment PRKRA 90.07 0 No comment RB1 99.04 0 No comment RBM10 100.00 0 No comment RBM8A 100.00 0 No comment RD3 100.00 0 No comment RDH12 100.00 0 No comment RECQL4 96.37 0 No comment RELN 99.96 0 No comment RET 98.13 0 No comment RIPK4 100.00 0 No comment RIT1 100.00 0 No comment RMND1 100.00 0 No comment RMRP 100.00 0 No comment RNASEH2A 100.00 0 No comment RNASEH2B 95.67 0 No comment RNASEH2C 100.00 0 No comment RNU4ATAC 100.00 0 No comment ROR2 98.67 0 No comment RPE65 100.00 0 No comment RPGRIP1 100.00 0 No comment RPGRIP1L 96.45 0 No comment RPL11 100.00 0 No comment RPL15 86.16 0 No comment RPL26 100.00 0 No comment RPL35A 100.00 0 No comment RPL5 99.37 0 No comment RPS10 100.00 0 No comment RPS17 98.70 0 No comment RPS19 100.00 0 No comment RPS24 100.00 0 No comment RPS26 100.00 0 No comment RPS6KA3 98.71 0 No comment RPS7 92.83 0 No comment RTTN 100.00 0 No comment RUNX2 98.51 0 No comment RXYLT1 99.84 0 No comment RYR1 98.38 0 No comment SACS 99.97 0 No comment SALL1 100.00 0 No comment SALL4 100.00 0 No comment SAMHD1 100.00 0 No comment SATB2 100.00 0 No comment SC5D 100.00 0 No comment SCARF2 86.46 0 No comment SDCCAG8 100.00 0 No comment SEC23A 100.00 0 No comment SELENON 84.04 0 No comment SEMA3A 100.00 0 No comment SEMA3E 100.00 0 No comment SEPSECS 99.97 0 No comment SEPTIN9 100.00 0 No comment SETBP1 99.99 0 No comment SF3B4 100.00 0 No comment SH3PXD2B 99.68 0 No comment SHANK3 83.99 0 No comment SHH 92.83 0 No comment SHOC2 100.00 0 No comment SIX1 100.00 0 No comment SIX3 99.59 0 No comment SIX5 88.67 0 No comment SIX6 100.00 0 No comment HHAT 90.28 0 No comment SLC12A1 100.00 0 No comment SLC12A6 100.00 0 No comment SLC20A2 100.00 0 No comment SLC25A19 100.00 0 No comment SLC26A2 99.96 0 No comment SLC2A10 98.97 0 No comment SLC35A2 100.00 0 No comment SLC35A3 100.00 0 No comment SLC35D1 99.99 0 No comment SLC6A8 98.78 0 No comment SLC9A6 99.96 0 No comment SLX4 100.00 0 No comment SMAD3 100.00 0 No comment SMAD4 100.00 0 No comment SMARCA4 100.00 0 No comment SMARCB1 100.00 0 No comment SMARCE1 100.00 0 No comment SMC1A 100.00 0 No comment SMC3 100.00 0 No comment SMOC1 99.36 0 No comment SNAP29 100.00 0 No comment SNIP1 100.00 0 No comment SOS1 100.00 0 No comment SOX10 96.79 0 No comment SOX2 98.05 0 No comment SOX3 85.62 0 No comment SOX9 97.88 0 No comment SPATA7 100.00 0 No comment SPECC1L 100.00 0 No comment SPG11 100.00 0 No comment SPRED1 100.00 0 No comment SPRY4 100.00 0 No comment SPTAN1 100.00 0 No comment SRD5A2 100.00 0 No comment SRD5A3 99.42 0 No comment SRY 39.13 0 No comment STAC3 100.00 0 No comment STAMBP 100.00 0 No comment STAT3 100.00 0 No comment STS 100.00 0 No comment STXBP1 100.00 0 No comment SUFU 100.00 0 No comment SUMO1 99.91 0 No comment SYNE1 100.00 0 No comment TACR3 100.00 0 No comment TAF2 100.00 0 No comment WWTR1 99.81 0 No comment TBC1D20 93.59 0 No comment TBX1 77.39 0 No comment TBX15 100.00 0 No comment TBX22 100.00 0 No comment TBX3 99.88 0 No comment TBX4 94.32 0 No comment TBX5 100.00 0 No comment TBX6 100.00 0 No comment TBXT 100.00 0 No comment TCF4 100.00 0 No comment TCOF1 99.99 0 No comment TCTN1 93.78 0 No comment TCTN2 100.00 0 No comment TCTN3 100.00 0 No comment TECPR2 100.00 0 No comment TFAP2A 100.00 0 No comment TGFB3 100.00 0 No comment TGFBR1 92.91 0 No comment TGFBR2 100.00 0 No comment TGIF1 100.00 0 No comment TMCO1 100.00 0 No comment TMEM138 100.00 0 No comment TMEM216 100.00 0 No comment TMEM231 100.00 0 No comment TMEM237 99.97 0 No comment TMEM67 100.00 0 No comment TMEM70 100.00 0 No comment TNNI2 100.00 0 No comment TNNT3 100.00 0 No comment TNXB 100.00 0 No comment TP63 100.00 0 No comment TPM2 100.00 0 No comment TRAPPC9 99.98 0 No comment TREM2 100.00 0 No comment TREX1 100.00 0 No comment TRIM32 100.00 0 No comment TRIP11 100.00 0 No comment TRPV4 100.00 0 No comment TSC1 100.00 0 No comment TSC2 100.00 0 No comment TSEN34 100.00 0 No comment TSEN54 94.23 0 No comment TSPYL1 100.00 0 No comment TTC8 100.00 0 No comment TUBA1A 100.00 0 No comment TUBA8 100.00 0 No comment TUBB2B 100.00 0 No comment TUBB3 98.24 0 No comment TUBGCP6 100.00 0 No comment TULP1 100.00 0 No comment TWIST1 70.93 0 No comment TYR 100.00 0 No comment TYROBP 100.00 0 No comment UBA1 100.00 0 No comment UBB 100.00 0 No comment UBE3A 100.00 0 No comment UBE3B 100.00 0 No comment UFD1 100.00 0 No comment UPF3B 100.00 0 No comment UPK3A 99.39 0 No comment UTRN 100.00 0 No comment VANGL1 100.00 0 No comment VANGL2 100.00 0 No comment VAX1 89.49 0 No comment VIPAS39 100.00 0 No comment VPS13B 99.25 0 No comment VPS33B 100.00 0 No comment VSX2 100.00 0 No comment VTI1A 100.00 0 No comment WASHC5 100.00 0 No comment WDPCP 100.00 0 No comment WDR11 100.00 0 No comment WDR19 100.00 0 No comment DYNC2I2 93.01 0 No comment WDR35 100.00 0 No comment DYNC2I1 99.86 0 No comment WDR62 100.00 0 No comment WDR81 99.97 0 No comment WNT10B 98.99 0 No comment WNT3 100.00 0 No comment WNT4 92.22 0 No comment WNT5A 99.97 0 No comment WNT7A 100.00 0 No comment WT1 96.46 0 No comment WWOX 100.00 0 No comment ZBTB18 100.00 0 No comment ZDHHC9 100.00 0 No comment ZEB2 100.00 0 No comment ZFPM2 99.96 0 No comment ZFYVE26 100.00 0 No comment ZIC1 100.00 0 No comment ZIC2 80.54 0 No comment ZMPSTE24 100.00 0 No comment ZNF423 100.00 0 No comment ZNF469 99.70 0 No comment -
Epilepsy gene panel - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 100.00 0 No comment AARS1 100.00 0 No comment AASS 100.00 0 No comment ABAT 100.00 0 No comment ABCB1 100.00 0 No comment ABCC8 99.81 0 No comment ABCD1 99.93 0 No comment ACADM 99.94 0 No comment ACADS 99.48 0 No comment ACADSB 100.00 0 No comment ACO2 100.00 0 No comment ACOX1 100.00 0 No comment ACSF3 100.00 0 No comment ACTB 100.00 0 No comment ACTG1 100.00 0 No comment ACVR1 100.00 0 No comment ACY1 100.00 0 No comment ADAR 100.00 0 No comment ADGRG1 100.00 0 No comment ADGRV1 100.00 0 No comment ADK 100.00 0 No comment ADRA2B 100.00 0 No comment ADSL 100.00 0 No comment AFG3L2 95.05 0 No comment AGA 100.00 0 No comment AGTR2 100.00 0 No comment AHI1 100.00 0 No comment AIFM1 100.00 0 No comment AIMP1 100.00 0 No comment AKT2 100.00 0 No comment AKT3 100.00 0 No comment ALDH18A1 100.00 0 No comment ALDH3A2 99.95 0 No comment ALDH4A1 97.15 0 No comment ALDH5A1 83.59 0 No comment ALDH7A1 100.00 0 No comment ALG1 92.65 0 No comment ALG11 100.00 0 No comment ALG12 100.00 0 No comment ALG13 99.96 0 No comment ALG2 99.94 0 No comment ALG3 99.22 0 No comment ALG6 100.00 0 No comment ALG8 95.91 0 No comment ALG9 98.65 0 No comment ALMS1 100.00 0 No comment AMACR 99.83 0 No comment AMER1 100.00 0 No comment AMT 99.94 0 No comment ANKH 100.00 0 No comment ANKRD11 100.00 0 No comment AP3B2 99.73 0 No comment AP4E1 100.00 0 No comment APTX 100.00 0 No comment AR 99.29 0 No comment ARFGEF2 100.00 0 No comment ARG1 100.00 0 No comment ARHGEF15 100.00 0 No comment ARHGEF9 100.00 0 No comment ARID1A 94.64 0 No comment ARID1B 92.99 0 No comment ARL13B 100.00 0 No comment ARSA 100.00 0 No comment SLURP1 85.73 0 No comment ARX 78.98 0 No comment ASAH1 99.94 0 No comment ASL 100.00 0 No comment ASNS 100.00 0 No comment ASPA 100.00 0 No comment ASPM 100.00 0 No comment ASS1 99.87 0 No comment ASXL1 99.91 0 No comment ATIC 99.06 0 No comment ATN1 100.00 0 No comment ATP1A2 100.00 0 No comment ATP1A3 100.00 0 No comment ATP2A2 100.00 0 No comment ATP5F1A 100.00 0 No comment ATP6AP2 99.95 0 No comment ATP6V0A2 100.00 0 No comment ATP7A 100.00 0 No comment ATPAF2 100.00 0 No comment ANTXR1 100.00 0 No comment ATRX 100.00 0 No comment ATXN10 99.48 0 No comment AUH 96.44 0 No comment AVPR2 100.00 0 No comment B3GALNT2 85.88 0 No comment B3GNT2 100.00 0 No comment B4GALT1 100.00 0 No comment B4GAT1 100.00 0 No comment BCAP31 100.00 0 No comment BCKDHA 100.00 0 No comment BCKDHB 100.00 0 No comment BCKDK 100.00 0 No comment BCS1L 100.00 0 No comment BOLA3 84.43 0 No comment BRAF 96.97 0 No comment BRAT1 100.00 0 No comment BRD2 95.47 0 No comment BTD 100.00 0 No comment BUB1B 100.00 0 No comment C12ORF57 100.00 0 No comment MTRFR 100.00 0 No comment CACNA1A 98.78 0 No comment CACNA1D 100.00 0 No comment CACNA1H 97.35 0 No comment CACNA2D1 100.00 0 No comment CACNA2D2 94.87 0 No comment CACNB4 100.00 0 No comment CAMK2B 99.93 0 No comment CASK 100.00 0 No comment CASQ2 100.00 0 No comment CASR 100.00 0 No comment CBL 100.00 0 No comment CBS 100.00 0 No comment CC2D2A 98.16 0 No comment CCBE1 99.97 0 No comment CCDC88C 99.92 0 No comment CCL2 100.00 0 No comment CCM2 99.98 0 No comment CDK5RAP2 100.00 0 No comment CDKL5 100.00 0 No comment CDON 100.00 0 No comment CELSR1 93.72 0 No comment CENPJ 100.00 0 No comment CEP135 100.00 0 No comment CEP152 100.00 0 No comment CEP164 100.00 0 No comment CEP290 99.99 0 No comment CEP41 100.00 0 No comment CEP63 95.17 0 No comment CERS1 77.89 0 No comment CHD2 100.00 0 No comment CHD8 100.00 0 No comment CHKB 99.69 0 No comment CHMP1A 100.00 0 No comment CHRNA2 100.00 0 No comment CHRNA4 97.18 0 No comment CHRNA7 97.88 0 No comment CHRNB2 99.92 0 No comment CLCN1 100.00 0 No comment CLCN2 100.00 0 No comment CLCN4 100.00 0 No comment CLCNKA 100.00 0 No comment CLCNKB 100.00 0 No comment CLDN16 100.00 0 No comment CLIC2 100.00 0 No comment CLN3 100.00 0 No comment CLN5 99.94 0 No comment CLN6 90.35 0 No comment CLN8 100.00 0 No comment CLPP 100.00 0 No comment CNTN2 100.00 0 No comment CNTNAP2 99.85 0 No comment COA5 100.00 0 No comment COG1 99.24 0 No comment COG4 100.00 0 No comment COG5 100.00 0 No comment COG6 100.00 0 No comment COG7 100.00 0 No comment COG8 100.00 0 No comment COL18A1 97.80 0 No comment COL4A1 98.71 0 No comment COL4A2 100.00 0 No comment COQ2 97.15 0 No comment COQ6 100.00 0 No comment COQ8A 100.00 0 No comment COQ9 99.99 0 No comment COX10 100.00 0 No comment COX14 100.00 0 No comment COX15 100.00 0 No comment COX20 98.72 0 No comment COX6B1 100.00 0 No comment CYP2A6 100.00 0 No comment CPLANE1 100.00 0 No comment CYP21A2 100.00 0 No comment CPT2 98.71 0 No comment CRH 100.00 0 No comment CRLF1 89.81 0 No comment CRPPA 95.75 0 No comment CSNK1G1 100.00 0 No comment CSPP1 100.00 0 No comment CSTB 99.03 0 No comment CTC1 100.00 0 No comment CTSA 100.00 0 No comment CTSD 99.45 0 No comment CTSF 87.32 0 No comment CUL4B 100.00 0 No comment CYP27A1 99.68 0 No comment CYP27B1 99.96 0 No comment D2HGDH 100.00 0 No comment DBT 100.00 0 No comment DCHS1 99.64 0 No comment DCX 100.00 0 No comment DDC 100.00 0 No comment DDOST 100.00 0 No comment DEPDC5 99.62 0 No comment DHCR24 99.96 0 No comment DHCR7 100.00 0 No comment DHDDS 100.00 0 No comment DHFR 99.48 0 No comment DLD 100.00 0 No comment DLGAP2 100.00 0 No comment DMD 100.00 0 No comment DNAJC5 100.00 0 No comment DNAJC6 100.00 0 No comment DNM1 94.44 0 No comment DOCK6 99.12 0 No comment DOCK7 99.17 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment DPYD 100.00 0 No comment DPYS 99.91 0 No comment DYNC1H1 100.00 0 No comment DYRK1A 100.00 0 No comment EARS2 100.00 0 No comment ECM1 100.00 0 No comment EEF1A2 99.76 0 No comment EFHC1 100.00 0 No comment EFHC2 100.00 0 No comment EFTUD2 100.00 0 No comment EHMT1 98.85 0 No comment EIF2B1 100.00 0 No comment EIF2B2 100.00 0 No comment EIF2B3 100.00 0 No comment EIF2B4 100.00 0 No comment EIF2B5 100.00 0 No comment ELOVL4 100.00 0 No comment ELP1 100.00 0 No comment ELP4 92.12 0 No comment EMX2 100.00 0 No comment EOMES 98.56 0 No comment EPG5 100.00 0 No comment EPM2A 85.54 0 No comment ERLIN2 100.00 0 No comment ERMARD 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment ETHE1 99.88 0 No comment EXOC6B 100.00 0 No comment EXOSC3 100.00 0 No comment EZH2 100.00 0 No comment FA2H 92.06 0 No comment FADD 92.08 0 No comment FAM126A 100.00 0 No comment FARS2 100.00 0 No comment FASTKD2 100.00 0 No comment FAT4 100.00 0 No comment FBXL4 100.00 0 No comment FGD1 99.39 0 No comment FGF8 94.82 0 No comment FGFR3 99.26 0 No comment FH 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNA 100.00 0 No comment FLVCR2 100.00 0 No comment FMR1 100.00 0 No comment FOLR1 100.00 0 No comment FOXG1 85.88 0 No comment FOXH1 100.00 0 No comment FTO 100.00 0 No comment FUCA1 100.00 0 No comment GABBR2 95.78 0 No comment GABRA1 100.00 0 No comment GABRB2 100.00 0 No comment GABRB3 99.79 0 No comment GABRD 94.04 0 No comment GABRG2 92.03 0 No comment GAL 100.00 0 No comment GALC 98.44 0 No comment GALNS 96.18 0 No comment GAMT 98.60 0 No comment GATA3 100.00 0 No comment GATA6 81.11 0 No comment GATM 99.26 0 No comment GBA 100.00 0 No comment GCDH 100.00 0 No comment GCH1 96.30 0 No comment GCK 100.00 0 No comment GCM2 100.00 0 No comment GCSH 76.04 0 No comment GFAP 100.00 0 No comment GFM1 100.00 0 No comment GJC2 81.91 0 No comment GLA 100.00 0 No comment GLB1 100.00 0 No comment GLDC 96.53 0 No comment GLI2 95.11 0 No comment GLI3 100.00 0 No comment GLRA1 100.00 0 No comment GLRB 100.00 0 No comment GLUD1 99.45 0 No comment GLUL 100.00 0 No comment GLYCTK 100.00 0 No comment GM2A 100.00 0 No comment GMPPB 100.00 0 No comment GNAO1 100.00 0 No comment GNE 100.00 0 No comment GNPTAB 100.00 0 No comment GNPTG 94.69 0 No comment GNS 100.00 0 No comment GOSR2 100.00 0 No comment GPC3 100.00 0 No comment GPHN 100.00 0 No comment GRIA3 100.00 0 No comment GRIN1 99.97 0 No comment GRIN2A 100.00 0 No comment GRIN2B 100.00 0 No comment GRINA 100.00 0 No comment GRN 100.00 0 No comment GTPBP3 100.00 0 No comment GUSB 100.00 0 No comment HADH 100.00 0 No comment HAX1 100.00 0 No comment HCCS 100.00 0 No comment HCFC1 100.00 0 No comment HCN1 95.88 0 No comment HCN4 92.35 0 No comment HDAC4 100.00 0 No comment HDAC8 100.00 0 No comment HEPACAM 96.82 0 No comment HERC2 99.62 0 No comment HESX1 100.00 0 No comment HEXA 100.00 0 No comment HEXB 99.82 0 No comment HGSNAT 93.95 0 No comment HLCS 100.00 0 No comment HMBS 100.00 0 No comment HNRNPU 99.54 0 No comment HPD 100.00 0 No comment HRAS 100.00 0 No comment HSD17B10 100.00 0 No comment HSD17B4 100.00 0 No comment HSPD1 99.53 0 No comment HYAL1 100.00 0 No comment IDH2 92.01 0 No comment IDS 100.00 0 No comment IDUA 88.67 0 No comment IER3IP1 99.93 0 No comment INPP5E 99.54 0 No comment INS 100.00 0 No comment INSR 97.31 0 No comment IQSEC2 99.73 0 No comment IVD 100.00 0 No comment JAM3 100.00 0 No comment JRK 100.00 0 No comment KANSL1 100.00 0 No comment KAT6A 100.00 0 No comment KAT6B 100.00 0 No comment KCNA1 100.00 0 No comment KCNA2 100.00 0 No comment KCNAB1 100.00 0 No comment KCNB1 99.89 0 No comment KCNC1 100.00 0 No comment KCND2 100.00 0 No comment KCNH1 100.00 0 No comment KCNH2 94.44 0 No comment KCNH5 100.00 0 No comment KCNJ1 100.00 0 No comment KCNJ10 100.00 0 No comment KCNJ11 100.00 0 No comment KCNK18 100.00 0 No comment KCNMA1 99.94 0 No comment KCNQ2 99.98 0 No comment KCNQ3 96.44 0 No comment KCNT1 99.74 0 No comment KCNV2 100.00 0 No comment KCTD7 97.35 0 No comment KDM5C 100.00 0 No comment KDM6A 100.00 0 No comment KIF11 100.00 0 No comment KIFBP 100.00 0 No comment KIF2A 98.88 0 No comment KIF4A 100.00 0 No comment KIF5C 100.00 0 No comment KIF7 96.94 0 No comment KMT2B 97.12 0 No comment KMT2D 100.00 0 No comment KNL1 98.62 0 No comment KPTN 100.00 0 No comment KRAS 100.00 0 No comment KRIT1 100.00 0 No comment L1CAM 100.00 0 No comment L2HGDH 99.96 0 No comment LAMA2 100.00 0 No comment LAMB1 100.00 0 No comment LAMC3 97.51 0 No comment LARGE1 100.00 0 No comment LBR 100.00 0 No comment LGI1 100.00 0 No comment LIAS 100.00 0 No comment LIG1 100.00 0 No comment LIG4 100.00 0 No comment LMBRD1 100.00 0 No comment LRFN1 100.00 0 No comment LRFN2 100.00 0 No comment LRFN3 99.97 0 No comment LRFN4 100.00 0 No comment LRFN5 100.00 0 No comment LRP2 99.96 0 No comment LRPPRC 99.14 0 No comment MAGI2 92.73 0 No comment MAGT1 100.00 0 No comment MAN1B1 99.99 0 No comment MAP2K1 100.00 0 No comment MAP2K2 99.98 0 No comment MAPK10 100.00 0 No comment MBD5 100.00 0 No comment MBTPS2 100.00 0 No comment MCCC1 100.00 0 No comment MCOLN1 97.27 0 No comment MCPH1 100.00 0 No comment ME2 100.00 0 No comment MECP2 98.28 0 No comment MED12 100.00 0 No comment MED17 100.00 0 No comment MEF2C 100.00 0 No comment MFSD8 100.00 0 No comment MGAT2 100.00 0 No comment MGME1 100.00 0 No comment MLC1 100.00 0 No comment MLYCD 85.50 0 No comment MMACHC 100.00 0 No comment MMADHC 100.00 0 No comment MMUT 100.00 0 No comment MOCS1 99.95 0 No comment MOCS2 100.00 0 No comment MOGS 98.73 0 No comment MPDU1 100.00 0 No comment MPDZ 100.00 0 No comment MPI 100.00 0 No comment MSX2 100.00 0 No comment MTHFR 100.00 0 No comment MTOR 100.00 0 No comment MTR 100.00 0 No comment MTRR 100.00 0 No comment MYO5A 99.60 0 No comment NAA10 96.03 0 No comment NAGA 100.00 0 No comment NAGLU 87.38 0 No comment NALCN 100.00 0 No comment NDE1 100.00 0 No comment NDP 100.00 0 No comment NDUFA1 100.00 0 No comment NDUFA10 95.87 0 No comment NDUFA11 98.06 0 No comment NDUFA12 100.00 0 No comment NDUFA2 100.00 0 No comment NDUFA9 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFAF2 100.00 0 No comment NDUFAF3 100.00 0 No comment NDUFAF4 100.00 0 No comment NDUFAF5 100.00 0 No comment NDUFAF6 93.73 0 No comment NDUFB3 100.00 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS3 100.00 0 No comment NDUFS4 100.00 0 No comment NDUFS6 100.00 0 No comment NDUFS7 99.49 0 No comment NDUFS8 100.00 0 No comment NDUFV1 100.00 0 No comment NDUFV2 100.00 0 No comment NECAP1 100.00 0 No comment NEDD4L 100.00 0 No comment NEU1 100.00 0 No comment NEXMIF 100.00 0 No comment NF1 99.95 0 No comment NFIX 97.15 0 No comment NGLY1 99.98 0 No comment NHEJ1 100.00 0 No comment NHLRC1 99.73 0 No comment NIN 100.00 0 No comment NIPA2 100.00 0 No comment NIPBL 99.98 0 No comment NLGN4X 100.00 0 No comment NLGN4Y 55.32 0 No comment NODAL 99.99 0 No comment NOTCH3 92.99 0 No comment NPC1 98.40 0 No comment NPC2 100.00 0 No comment NPHP1 100.00 0 No comment NPRL2 100.00 0 No comment NPRL3 100.00 0 No comment NRAS 100.00 0 No comment NRXN1 98.52 0 No comment NSD1 100.00 0 No comment NSDHL 100.00 0 No comment NTRK2 100.00 0 No comment NUBPL 100.00 0 No comment NUS1 100.00 0 No comment OCLN 100.00 0 No comment OCRL 99.77 0 No comment OFD1 99.88 0 No comment OPHN1 100.00 0 No comment OTC 100.00 0 No comment OTX2 100.00 0 No comment PAFAH1B1 100.00 0 No comment PAH 99.94 0 No comment PAK3 100.00 0 No comment PANK2 98.60 0 No comment PAX6 100.00 0 No comment PODXL 100.00 0 No comment PCBD1 92.74 0 No comment PCDH19 99.91 0 No comment PCNT 100.00 0 No comment PDCD10 100.00 0 No comment PDE6D 100.00 0 No comment PDGFB 99.77 0 No comment PDGFRB 100.00 0 No comment PDHA1 98.17 0 No comment PDHX 99.87 0 No comment PDP1 100.00 0 No comment PDSS1 86.24 0 No comment PDSS2 100.00 0 No comment PET100 100.00 0 No comment PEX1 100.00 0 No comment PEX10 88.47 0 No comment PEX11B 100.00 0 No comment PEX12 100.00 0 No comment PEX13 100.00 0 No comment PEX14 100.00 0 No comment PEX16 100.00 0 No comment PEX19 100.00 0 No comment PEX2 100.00 0 No comment PEX26 100.00 0 No comment PEX3 100.00 0 No comment PEX5 100.00 0 No comment PEX6 98.56 0 No comment PEX7 91.13 0 No comment PGAP2 100.00 0 No comment PGAP3 99.90 0 No comment PGK1 100.00 0 No comment PGM1 100.00 0 No comment PHF6 100.00 0 No comment PHGDH 100.00 0 No comment PIGA 100.00 0 No comment PIGL 100.00 0 No comment PIGM 100.00 0 No comment PIGN 100.00 0 No comment PIGO 100.00 0 No comment PIGQ 100.00 0 No comment PIGV 100.00 0 No comment PIK3AP1 99.56 0 No comment PIK3CA 100.00 0 No comment PIK3R2 89.19 0 No comment PLA2G6 100.00 0 No comment PLCB1 100.00 0 No comment PLP1 100.00 0 No comment PMM2 100.00 0 No comment PNKP 100.00 0 No comment PNPO 100.00 0 No comment POLG 100.00 0 No comment POLG2 100.00 0 No comment POLR3A 100.00 0 No comment POLR3B 100.00 0 No comment POMC 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PPFIA1 100.00 0 No comment PPFIA2 100.00 0 No comment PPFIA3 98.81 0 No comment PPFIA4 100.00 0 No comment PPFIBP1 100.00 0 No comment PPFIBP2 100.00 0 No comment PPP2R2C 100.00 0 No comment PPT1 100.00 0 No comment PQBP1 100.00 0 No comment PRF1 100.00 0 No comment PRICKLE1 100.00 0 No comment PRICKLE2 100.00 0 No comment PRODH 86.43 0 No comment PRRT2 100.00 0 No comment PSAP 100.00 0 No comment PSAT1 100.00 0 No comment PTCH1 98.48 0 No comment PTEN 98.86 0 No comment PTH 100.00 0 No comment PTPN11 98.80 0 No comment PTS 100.00 0 No comment PURA 85.32 0 No comment QARS1 100.00 0 No comment QDPR 99.04 0 No comment RAB18 100.00 0 No comment RAB27A 100.00 0 No comment RAB39B 100.00 0 No comment RAB3GAP1 100.00 0 No comment RAB3GAP2 100.00 0 No comment RAD21 100.00 0 No comment RAF1 100.00 0 No comment RAI1 96.06 0 No comment RANGAP1 100.00 0 No comment RARS2 100.00 0 No comment RBBP8 100.00 0 No comment RBFOX1 99.94 0 No comment RBFOX3 99.96 0 No comment RELN 99.96 0 No comment RFT1 100.00 0 No comment RGMA 99.10 0 No comment RHOBTB2 100.00 0 No comment RNASEH2A 100.00 0 No comment RNASEH2B 95.67 0 No comment RNASEH2C 100.00 0 No comment RNASET2 99.98 0 No comment ROGDI 91.80 0 No comment RORB 100.00 0 No comment RPGRIP1L 96.45 0 No comment RPIA 100.00 0 No comment RRM2B 100.00 0 No comment RTTN 100.00 0 No comment RUBCN 97.68 0 No comment RXYLT1 99.84 0 No comment RYR3 100.00 0 No comment SAMHD1 100.00 0 No comment SATB2 100.00 0 No comment SCARB2 100.00 0 No comment SCN10A 100.00 0 No comment SCN1A 100.00 0 No comment SCN1B 94.12 0 No comment SCN2A 100.00 0 No comment SCN2B 100.00 0 No comment SCN3A 100.00 0 No comment SCN3B 100.00 0 No comment SCN4A 100.00 0 No comment SCN4B 100.00 0 No comment SCN5A 100.00 0 No comment SCN8A 100.00 0 No comment SCN9A 100.00 0 No comment SCO2 100.00 0 No comment SDHA 98.02 0 No comment SDHAF1 96.03 0 No comment SEPSECS 99.97 0 No comment SERPINI1 100.00 0 No comment SETBP1 99.99 0 No comment SGSH 99.99 0 No comment SHANK3 83.99 0 No comment SHH 92.83 0 No comment SHOC2 100.00 0 No comment SHROOM4 100.00 0 No comment SIK1 100.00 0 No comment SIX3 99.59 0 No comment SLC12A5 100.00 0 No comment SLC12A6 100.00 0 No comment SLC13A5 100.00 0 No comment SLC16A1 100.00 0 No comment SLC16A2 100.00 0 No comment SLC17A5 100.00 0 No comment SLC19A3 100.00 0 No comment SLC1A3 100.00 0 No comment SLC20A2 100.00 0 No comment SLC25A1 93.77 0 No comment SLC25A12 100.00 0 No comment SLC25A15 100.00 0 No comment SLC25A19 100.00 0 No comment SLC25A20 100.00 0 No comment SLC25A22 100.00 0 No comment SLC2A1 99.94 0 No comment SLC2A2 100.00 0 No comment SLC35A1 100.00 0 No comment SLC35A2 100.00 0 No comment SLC35C1 100.00 0 No comment SLC3A2 88.97 0 No comment SLC46A1 99.95 0 No comment SLC4A10 100.00 0 No comment SLC6A1 100.00 0 No comment SLC6A5 100.00 0 No comment SLC6A8 98.78 0 No comment SLC9A6 99.96 0 No comment SLC9A9 100.00 0 No comment SMARCA1 99.59 0 No comment SMARCA2 98.07 0 No comment SMARCA4 100.00 0 No comment SMARCB1 100.00 0 No comment SMARCE1 100.00 0 No comment SMC1A 100.00 0 No comment SMC3 100.00 0 No comment SMPD1 100.00 0 No comment SNAP25 100.00 0 No comment SNAP29 100.00 0 No comment SNIP1 100.00 0 No comment SOS1 100.00 0 No comment SOX10 96.79 0 No comment SOX2 98.05 0 No comment SPRED1 100.00 0 No comment SPTAN1 100.00 0 No comment SRD5A3 99.42 0 No comment SRGAP3 100.00 0 No comment SRPX2 100.00 0 No comment ST3GAL3 100.00 0 No comment ST3GAL5 92.64 0 No comment STAMBP 100.00 0 No comment STIL 100.00 0 No comment STRADA 100.00 0 No comment STX1B 100.00 0 No comment STXBP1 100.00 0 No comment SUCLA2 100.00 0 No comment SUCLG1 95.74 0 No comment SUMF1 100.00 0 No comment SUOX 100.00 0 No comment SURF1 87.74 0 No comment SYN1 95.92 0 No comment SYNGAP1 100.00 0 No comment SYNJ1 99.96 0 No comment SYP 99.27 0 No comment SZT2 100.00 0 No comment TACO1 99.90 0 No comment TBC1D20 93.59 0 No comment TBC1D24 100.00 0 No comment TBCE 100.00 0 No comment TBX1 77.39 0 No comment TCF4 100.00 0 No comment TCTN1 93.78 0 No comment TCTN2 100.00 0 No comment TCTN3 100.00 0 No comment TGIF1 100.00 0 No comment TK2 95.90 0 No comment TMEM138 100.00 0 No comment TMEM165 89.91 0 No comment TMEM216 100.00 0 No comment TMEM231 100.00 0 No comment TMEM237 99.97 0 No comment TMEM67 100.00 0 No comment TMEM70 100.00 0 No comment TNK2 100.00 0 No comment ACD 100.00 0 No comment TREM2 100.00 0 No comment TREX1 100.00 0 No comment TRPM6 100.00 0 No comment TSC1 100.00 0 No comment TSC2 100.00 0 No comment TSEN2 100.00 0 No comment TSEN34 100.00 0 No comment TSEN54 94.23 0 No comment TTC21B 100.00 0 No comment TTR 100.00 0 No comment TUBA1A 100.00 0 No comment TUBA8 100.00 0 No comment TUBB2A 99.99 0 No comment TUBB2B 100.00 0 No comment TUBB3 98.24 0 No comment TUBB4A 99.85 0 No comment TUBG1 100.00 0 No comment TUSC3 100.00 0 No comment TWNK 100.00 0 No comment TYROBP 100.00 0 No comment UBE2A 99.62 0 No comment UBE3A 100.00 0 No comment UBR5 100.00 0 No comment UPB1 100.00 0 No comment VANGL1 100.00 0 No comment VARS2 100.00 0 No comment VDAC1 99.21 0 No comment VLDLR 96.53 0 No comment VPS13A 100.00 0 No comment VPS13B 99.25 0 No comment VPS53 100.00 0 No comment VRK1 100.00 0 No comment WDR45 100.00 0 No comment WDR62 100.00 0 No comment WFS1 100.00 0 No comment WWOX 100.00 0 No comment XK 100.00 0 No comment ZBTB18 100.00 0 No comment ZC4H2 100.00 0 No comment ZDHHC9 100.00 0 No comment ZEB2 100.00 0 No comment ZIC2 80.54 0 No comment ZNF335 100.00 0 No comment -
Hypogonadotropic hypogonadism (33 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ANOS1 95.04 0 No comment CHD7 100.00 0 No comment DMXL2 100.00 0 No comment DUSP6 100.00 0 No comment FEZF1 100.00 0 No comment FGF17 100.00 0 No comment FGF8 94.82 0 No comment FGFR1 100.00 0 No comment FLRT3 100.00 0 No comment FSHB 100.00 0 No comment GNRH1 100.00 0 No comment GNRHR 100.00 0 No comment HESX1 100.00 0 No comment HS6ST1 98.52 0 No comment IL17RD 98.31 0 No comment KISS1 100.00 0 No comment KISS1R 94.58 0 No comment LHB 97.18 0 No comment MKRN3 100.00 0 No comment NR0B1 100.00 0 No comment NSMF 95.23 0 No comment OTUD4 100.00 0 No comment PCSK1 100.00 0 No comment PNPLA6 100.00 0 No comment PROK2 98.51 0 No comment PROKR2 100.00 0 No comment RNF216 100.00 0 No comment SEMA3A 100.00 0 No comment SEMA7A 93.22 0 No comment SOX10 96.79 0 No comment TAC3 100.00 0 No comment TACR3 100.00 0 No comment WDR11 100.00 0 No comment -
LHON (3 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments MT-ND1 MT-ND4 MT-ND6 -
Leigh syndrome (mtDNA / 37 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments MT-ND1 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-ND2 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-ND3 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-ND4L 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-ND4 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-ND5 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-ND6 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-CO1 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-CO2 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-CO3 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-ATP8 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-ATP6 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-CYB 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TF 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TQ 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TW 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TL1 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TH 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TS1 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TS2 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TP 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TK 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TT 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TL2 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TV 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TE 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TI 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TM 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TN 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TA 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TC 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TG 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TR 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TY 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-TD 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-RNR1 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations MT-RNR2 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations -
Lysomal Storage (64 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADCY5 94.52 0 No comment AGA 100.00 0 No comment ARSA 100.00 0 No comment SLURP1 85.73 0 No comment ASAH1 99.94 0 No comment CHIT1 100.00 0 No comment CLN3 100.00 0 No comment CLN5 99.94 0 No comment CLN6 90.35 0 No comment CLN8 100.00 0 No comment CTNS 100.00 0 No comment CTSA 100.00 0 No comment CTSC 100.00 0 No comment CTSD 99.45 0 No comment CTSK 100.00 0 No comment DGUOK 100.00 0 No comment FBXL4 100.00 0 No comment FUCA1 100.00 0 No comment GAA 100.00 0 No comment GALC 98.44 0 No comment GALNS 96.18 0 No comment GBA 100.00 0 No comment GLA 100.00 0 No comment GLB1 100.00 0 No comment GM2A 100.00 0 No comment GNPTAB 100.00 0 No comment GNPTG 94.69 0 No comment GNS 100.00 0 No comment GUSB 100.00 0 No comment HEXA 100.00 0 No comment HEXB 99.82 0 No comment HGSNAT 93.95 0 No comment HYAL1 100.00 0 No comment IDS 100.00 0 No comment IDUA 88.67 0 No comment LAMP2 100.00 0 No comment LIPA 100.00 0 No comment MAN2B1 100.00 0 No comment MANBA 99.97 0 No comment MCOLN1 97.27 0 No comment MFSD8 100.00 0 No comment MGME1 100.00 0 No comment MPV17 100.00 0 No comment NAGA 100.00 0 No comment NAGLU 87.38 0 No comment NEU1 100.00 0 No comment NPC1 98.40 0 No comment NPC2 100.00 0 No comment OCRL 99.77 0 No comment POLG 100.00 0 No comment PPT1 100.00 0 No comment PSAP 100.00 0 No comment RRM2B 100.00 0 No comment SGSH 99.99 0 No comment SLC17A5 100.00 0 No comment SMPD1 100.00 0 No comment STS 100.00 0 No comment SUCLA2 100.00 0 No comment SUCLG1 95.74 0 No comment SUMF1 100.00 0 No comment TK2 95.90 0 No comment ACD 100.00 0 No comment TWNK 100.00 0 No comment TYMP 91.72 0 No comment -
MNGIE syndrome (4 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments TYMP POLG POLG2 RRM2B -
Malformations of cortical development (235 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACTB 100.00 0 No comment ACTG1 100.00 0 No comment ADGRG1 100.00 0 No comment AGBL2 96.33 0 No comment AHI1 100.00 0 No comment AKT1 100.00 0 No comment AKT3 100.00 0 No comment AP1S2 100.00 0 No comment AP4E1 100.00 0 No comment AP4M1 100.00 0 No comment AP4S1 87.40 0 No comment ARFGEF2 100.00 0 No comment ARHGAP31 100.00 0 No comment ARID1B 92.99 0 No comment ARL13B 100.00 0 No comment ARX 78.98 0 No comment ASNS 100.00 0 No comment ASPM 100.00 0 No comment ASXL1 99.91 0 No comment ATP6V0A2 100.00 0 No comment ANTXR1 100.00 0 No comment B3GALNT2 85.88 0 No comment B3GNT2 100.00 0 No comment B4GAT1 100.00 0 No comment BICD2 100.00 0 No comment C2CD3 100.00 0 No comment CACNA1E 100.00 0 No comment CASK 100.00 0 No comment CCND2 100.00 0 No comment CDK5 100.00 0 No comment CDK5RAP2 100.00 0 No comment CDK6 100.00 0 No comment CDON 100.00 0 No comment CENPE 100.00 0 No comment CENPJ 100.00 0 No comment CEP135 100.00 0 No comment CEP152 100.00 0 No comment CEP55 100.00 0 No comment CHD7 100.00 0 No comment CHD8 100.00 0 No comment CIT 100.00 0 No comment CKAP2L 100.00 0 No comment CNOT1 100.00 0 No comment CNTNAP2 99.85 0 No comment COL18A1 97.80 0 No comment COL3A1 100.00 0 No comment COL4A1 98.71 0 No comment COL4A2 100.00 0 No comment CRADD 100.00 0 No comment CRPPA 95.75 0 No comment CSPP1 100.00 0 No comment CUL4B 100.00 0 No comment DAB1 100.00 0 No comment DAG1 100.00 0 No comment DCHS1 99.64 0 No comment DCLK2 100.00 0 No comment DCX 100.00 0 No comment DDX3X 100.00 0 No comment DEPDC5 99.62 0 No comment DHCR7 100.00 0 No comment DISP1 100.00 0 No comment DKC1 100.00 0 No comment DOCK6 99.12 0 No comment DYNC1H1 100.00 0 No comment EIF2AK3 95.52 0 No comment EIF2S3 100.00 0 No comment EMG1 100.00 0 No comment EML1 97.08 0 No comment EMX2 100.00 0 No comment EOMES 98.56 0 No comment EPG5 100.00 0 No comment ERCC1 100.00 0 No comment ERCC2 100.00 0 No comment ERCC5 100.00 0 No comment ERCC6 100.00 0 No comment ERMARD 100.00 0 No comment EZH2 100.00 0 No comment FAT4 100.00 0 No comment FGF8 94.82 0 No comment FH 100.00 0 No comment FIG4 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNA 100.00 0 No comment FOXC1 62.57 0 No comment FOXG1 85.88 0 No comment FOXH1 100.00 0 No comment FUBP1 100.00 0 No comment GAS1 62.99 0 No comment GLI2 95.11 0 No comment GMPPB 100.00 0 No comment GNAQ 100.00 0 No comment GPC3 100.00 0 No comment GPSM2 100.00 0 No comment GRIN1 99.97 0 No comment GRIN2B 100.00 0 No comment HEPACAM 96.82 0 No comment HERC1 100.00 0 No comment HNRNPU 99.54 0 No comment HSD17B4 100.00 0 No comment HYLS1 100.00 0 No comment IER3IP1 99.93 0 No comment INTS8 100.00 0 No comment JAM3 100.00 0 No comment KAT6A 100.00 0 No comment KAT6B 100.00 0 No comment KATNB1 100.00 0 No comment KDM5C 100.00 0 No comment KIF11 100.00 0 No comment KIFBP 100.00 0 No comment KIF21B 100.00 0 No comment KIF2A 98.88 0 No comment KIF5C 100.00 0 No comment KIF7 96.94 0 No comment KNL1 98.62 0 No comment L1CAM 100.00 0 No comment LAMA1 99.93 0 No comment LAMA2 100.00 0 No comment LAMB1 100.00 0 No comment LAMC3 97.51 0 No comment LARGE1 100.00 0 No comment MACF1 100.00 0 No comment MAN2C1 100.00 0 No comment MAP1B 100.00 0 No comment MAPK8IP3 99.25 0 No comment MCPH1 100.00 0 No comment MECP2 98.28 0 No comment MED12 99.96 0 No comment MED17 100.00 0 No comment MEF2C 100.00 0 No comment MFSD2A 100.00 0 No comment MID1 100.00 0 No comment MPDZ 100.00 0 No comment MTOR 100.00 0 No comment MYCN 86.70 0 No comment MYH10 100.00 0 No comment NBN 100.00 0 No comment NDE1 100.00 0 No comment NEDD4L 100.00 0 No comment NFIB 100.00 0 No comment NHEJ1 100.00 0 No comment NIPBL 99.98 0 No comment NODAL 99.99 0 No comment NPRL2 100.00 0 No comment NPRL3 100.00 0 No comment NR2F1 92.00 0 No comment NSD1 100.00 0 No comment NSDHL 100.00 0 No comment OCLN 100.00 0 No comment OFD1 99.88 0 No comment PAFAH1B1 100.00 0 No comment PAX6 100.00 0 No comment PCNT 100.00 0 No comment PEX1 100.00 0 No comment PI4KA 99.44 0 No comment PIGA 100.00 0 No comment PIK3CA 100.00 0 No comment PIK3R2 89.19 0 No comment PITX2 100.00 0 No comment PLK4 100.00 0 No comment PNKP 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PRRX1 100.00 0 No comment PSAT1 100.00 0 No comment PTCH1 98.48 0 No comment PTEN 98.86 0 No comment PYCR2 100.00 0 No comment QARS1 100.00 0 No comment RAB18 100.00 0 No comment RAB3GAP1 100.00 0 No comment RAB3GAP2 100.00 0 No comment RELN 99.96 0 No comment RNASEH2A 100.00 0 No comment RNASEH2B 95.67 0 No comment RNASEH2C 100.00 0 No comment RNASET2 99.98 0 No comment RNU4ATAC 100.00 0 No comment RTTN 100.00 0 No comment RXYLT1 99.84 0 No comment SAMHD1 100.00 0 No comment SCN3A 100.00 0 No comment SETD5 100.00 0 No comment SF3B4 100.00 0 No comment SHH 92.83 0 No comment SIN3A 99.82 0 No comment SIX3 99.59 0 No comment SLC25A19 100.00 0 No comment SLC35A2 100.00 0 No comment SLC9A6 99.96 0 No comment SMPD4 99.97 0 No comment SNAP29 100.00 0 No comment SOX9 97.88 0 No comment SPATA5 100.00 0 No comment SRD5A3 99.42 0 No comment SRPX2 100.00 0 No comment STAMBP 100.00 0 No comment STIL 100.00 0 No comment STRADA 100.00 0 No comment TBC1D20 93.59 0 No comment TBC1D24 100.00 0 No comment TBC1D7 100.00 0 No comment TCF4 100.00 0 No comment TCTN1 93.78 0 No comment TGIF1 100.00 0 No comment TMEM216 100.00 0 No comment TMEM67 100.00 0 No comment TMX2 100.00 0 No comment TREX1 100.00 0 No comment TSC1 100.00 0 No comment TSC2 100.00 0 No comment TSEN54 94.23 0 No comment TUBA1A 100.00 0 No comment TUBA8 100.00 0 No comment TUBB 99.87 0 No comment TUBB2A 99.99 0 No comment TUBB2B 100.00 0 No comment TUBB3 98.24 0 No comment TUBB4A 99.85 0 No comment TUBG1 100.00 0 No comment TUBGCP4 99.99 0 No comment TUBGCP6 100.00 0 No comment UBE3A 100.00 0 No comment VLDLR 96.53 0 No comment VPS13B 99.25 0 No comment WDR62 100.00 0 No comment WDR73 100.00 0 No comment YWHAE 98.69 0 No comment ZEB2 100.00 0 No comment ZIC2 80.54 0 No comment ZNF335 100.00 0 No comment ZSWIM6 88.87 0 No comment -
Metabolic disorders (213 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABAT 100.00 0 No comment ABCD1 99.93 0 No comment ACAT1 97.28 0 No comment ACOX1 100.00 0 No comment AGL 99.98 0 No comment AGPS 100.00 0 No comment AGXT 100.00 0 No comment ALDH18A1 100.00 0 No comment ALDH7A1 100.00 0 No comment ALDOA 100.00 0 No comment ALDOB 100.00 0 No comment ALG1 92.65 0 No comment ALG10 100.00 0 No comment ALG11 100.00 0 No comment ALG12 100.00 0 No comment ALG13 99.96 0 No comment ALG14 100.00 0 No comment ALG2 99.94 0 No comment ALG3 99.22 0 No comment ALG5 99.99 0 No comment ALG6 100.00 0 No comment ALG8 95.91 0 No comment ALG9 98.65 0 No comment AMACR 99.83 0 No comment AMT 99.94 0 No comment ASPA 100.00 0 No comment ATP6AP1 99.51 0 No comment ATP6V0A2 100.00 0 No comment ATP6V1A 100.00 0 No comment ATP6V1E1 100.00 0 No comment ATP7A 100.00 0 No comment ATP9B 99.97 0 No comment B3GALNT2 85.88 0 No comment B3GALT6 56.12 0 No comment B3GAT3 95.56 0 No comment B3GLCT 94.89 0 No comment B4GALNT1 100.00 0 No comment B4GALT1 100.00 0 No comment B4GALT7 93.23 0 No comment BCKDHA 100.00 0 No comment BCKDHB 100.00 0 No comment BTD 100.00 0 No comment CAD 100.00 0 No comment CCDC115 100.00 0 No comment CHST14 98.57 0 No comment CHST3 100.00 0 No comment CHST6 100.00 0 No comment CHSY1 91.67 0 No comment COG1 99.24 0 No comment COG2 100.00 0 No comment COG3 100.00 0 No comment COG4 100.00 0 No comment COG5 100.00 0 No comment COG6 100.00 0 No comment COG7 100.00 0 No comment COG8 100.00 0 No comment CRPPA 95.75 0 No comment CTH 100.00 0 No comment D2HGDH 100.00 0 No comment DAD1 100.00 0 No comment DBH 100.00 0 No comment DBT 100.00 0 No comment DDC 100.00 0 No comment DDOST 100.00 0 No comment DHDDS 100.00 0 No comment DNM1L 100.00 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment ENO3 100.00 0 No comment EOGT 100.00 0 No comment EXT1 100.00 0 No comment EXT2 100.00 0 No comment FANCA 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FUT1 100.00 0 No comment G6PC1 100.00 0 No comment GAA 100.00 0 No comment GABRG2 92.03 0 No comment GALE 100.00 0 No comment GALK1 99.95 0 No comment GALNT3 100.00 0 No comment GALT 100.00 0 No comment GAMT 98.60 0 No comment GANAB 100.00 0 No comment GATM 99.26 0 No comment GBE1 100.00 0 No comment GCDH 100.00 0 No comment GCH1 96.30 0 No comment GCSH 76.04 0 No comment GFPT1 99.98 0 No comment GLDC 96.53 0 No comment GMPPA 100.00 0 No comment GMPPB 100.00 0 No comment GNE 100.00 0 No comment GNMT 100.00 0 No comment GNPAT 100.00 0 No comment GYS1 100.00 0 No comment GYS2 100.00 0 No comment HGD 100.00 0 No comment HLCS 100.00 0 No comment HMGCL 100.00 0 No comment HPRT1 94.60 0 No comment HSD17B4 100.00 0 No comment IVD 100.00 0 No comment LAMP2 100.00 0 No comment LARGE1 100.00 0 No comment LDHA 100.00 0 No comment LFNG 82.55 0 No comment MAGT1 100.00 0 No comment MAN1B1 99.99 0 No comment MAOA 99.95 0 No comment MCCC1 100.00 0 No comment MCCC2 99.99 0 No comment MGAT2 100.00 0 No comment MMAA 100.00 0 No comment MMAB 100.00 0 No comment MMACHC 100.00 0 No comment MOGS 98.73 0 No comment MPDU1 100.00 0 No comment MPI 100.00 0 No comment MMUT 100.00 0 No comment NANS 100.00 0 No comment NGLY1 99.98 0 No comment NUS1 100.00 0 No comment OAT 100.00 0 No comment OST4 100.00 0 No comment PCCA 100.00 0 No comment PCCB 99.98 0 No comment PEX1 100.00 0 No comment PEX10 88.47 0 No comment PEX11B 100.00 0 No comment PEX12 100.00 0 No comment PEX13 100.00 0 No comment PEX14 100.00 0 No comment PEX16 100.00 0 No comment PEX19 100.00 0 No comment PEX2 100.00 0 No comment PEX26 100.00 0 No comment PEX3 100.00 0 No comment PEX5 100.00 0 No comment PEX6 98.56 0 No comment PEX7 91.13 0 No comment PFKM 100.00 0 No comment PGAM2 100.00 0 No comment PGAP1 100.00 0 No comment PGAP2 100.00 0 No comment PGAP3 99.90 0 No comment PGM1 100.00 0 No comment PGM2 100.00 0 No comment PGM3 99.99 0 No comment PHGDH 100.00 0 No comment PHKA1 100.00 0 No comment PHKA2 100.00 0 No comment PHKB 100.00 0 No comment PHKG2 100.00 0 No comment PIGA 100.00 0 No comment PIGC 100.00 0 No comment PIGG 100.00 0 No comment PIGL 100.00 0 No comment PIGM 100.00 0 No comment PIGN 100.00 0 No comment PIGO 100.00 0 No comment PIGV 100.00 0 No comment PIGW 100.00 0 No comment PIGY 100.00 0 No comment PMM2 100.00 0 No comment PNPO 100.00 0 No comment POFUT1 100.00 0 No comment POGLUT1 100.00 0 No comment POMGNT1 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PRKCSH 100.00 0 No comment PSAT1 100.00 0 No comment PYGL 100.00 0 No comment PYGM 100.00 0 No comment RFT1 100.00 0 No comment RPN1 100.00 0 No comment RPN2 100.00 0 No comment RXYLT1 99.84 0 No comment SCP2 100.00 0 No comment SEC23B 100.00 0 No comment SLC25A22 100.00 0 No comment SLC2A1 99.94 0 No comment SLC35A1 100.00 0 No comment SLC35A2 100.00 0 No comment SLC35A3 100.00 0 No comment SLC35C1 100.00 0 No comment SLC35D1 99.99 0 No comment SLC39A8 97.00 0 No comment SLC3A1 100.00 0 No comment SLC6A19 100.00 0 No comment SLC6A8 98.78 0 No comment SLC7A9 100.00 0 No comment SPR 96.81 0 No comment SRD5A3 99.42 0 No comment SSR3 100.00 0 No comment SSR4 99.93 0 No comment ST3GAL3 100.00 0 No comment ST3GAL5 92.64 0 No comment STT3A 100.00 0 No comment STT3B 99.25 0 No comment TMEM165 89.91 0 No comment TMEM199 100.00 0 No comment TRAPPC11 100.00 0 No comment TUSC3 100.00 0 No comment VPS13B 99.25 0 No comment XYLT1 88.83 0 No comment XYLT2 98.70 0 No comment -
Neurodevelopmental disorders: developmental delay, intellectual disability, autistic disorders (1162 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 100.00 0 No comment ABCC6 100.00 0 No comment ABCC9 100.00 0 No comment ABCD1 99.93 0 No comment ABCD4 100.00 0 No comment ABCG5 100.00 0 No comment ABHD5 99.98 0 No comment ABI2 100.00 0 No comment ACAD9 100.00 0 No comment ACAT1 97.28 0 No comment ACO2 100.00 0 No comment ACOX1 100.00 0 No comment ACSF3 100.00 0 No comment ACSL4 100.00 0 No comment ACTB 100.00 0 No comment ACTG1 100.00 0 No comment ACVR1 100.00 0 No comment ACY1 100.00 0 No comment ADAR 100.00 0 No comment ADAT3 97.38 0 No comment ADCY5 94.52 0 No comment ADGRG1 100.00 0 No comment ADK 100.00 0 No comment ADNP 100.00 0 No comment ADRA2B 100.00 0 No comment ADSL 100.00 0 No comment AFF2 100.00 0 No comment AFF3 99.89 0 No comment AFP 100.00 0 No comment AGA 100.00 0 No comment AGBL4 100.00 0 No comment AGL 99.98 0 No comment AGPAT2 96.18 0 No comment AGXT 100.00 0 No comment AGTR2 100.00 0 No comment AHCY 100.00 0 No comment AHDC1 100.00 0 No comment AHI1 100.00 0 No comment AIFM1 100.00 0 No comment AIMP1 100.00 0 No comment AK1 100.00 0 No comment AKT1 100.00 0 No comment AKT1S1 99.49 0 No comment AKT3 100.00 0 No comment ALDH18A1 100.00 0 No comment ALDH3A2 99.95 0 No comment ALDH4A1 97.15 0 No comment ALDH5A1 83.59 0 No comment ALG1 92.65 0 No comment ALG11 100.00 0 No comment ALG12 100.00 0 No comment ALG13 99.96 0 No comment ALG2 99.94 0 No comment ALG3 99.22 0 No comment ALG6 100.00 0 No comment ALG9 98.65 0 No comment ALX1 100.00 0 No comment ALX4 99.70 0 No comment AMER1 100.00 0 No comment AMPD2 100.00 0 No comment AMT 99.94 0 No comment ANK2 100.00 0 No comment ANK3 100.00 0 No comment ANKH 100.00 0 No comment ANKRD11 100.00 0 No comment ANO10 100.00 0 No comment ANO3 100.00 0 No comment ANO5 100.00 0 No comment ANTXR1 100.00 0 No comment AP1S1 100.00 0 No comment AP1S2 100.00 0 No comment AP3B1 100.00 0 No comment AP4B1 100.00 0 No comment AP4E1 100.00 0 No comment AP4M1 100.00 0 No comment AP4S1 87.40 0 No comment APAF1 100.00 0 No comment APC 100.00 0 No comment APTX 100.00 0 No comment AQP7 100.00 0 No comment AR 99.29 0 No comment ARFGEF2 100.00 0 No comment ARG1 100.00 0 No comment ARHGEF4 100.00 0 No comment ARHGEF6 100.00 0 No comment ARHGEF7 99.95 0 No comment ARHGEF9 100.00 0 No comment ARID1A 94.64 0 No comment ARID1B 92.99 0 No comment ARID2 100.00 0 No comment ARL13B 100.00 0 No comment ARL6 100.00 0 No comment ARSL 100.00 0 No comment ARX 78.98 0 No comment ASH1L 100.00 0 No comment ASL 100.00 0 No comment ASNS 100.00 0 No comment ASPA 100.00 0 No comment ASPM 100.00 0 No comment ASS1 99.87 0 No comment ASTN2 91.86 0 No comment ASXL1 99.91 0 No comment ASXL3 100.00 0 No comment ATIC 99.06 0 No comment ATL1 100.00 0 No comment ATM 100.00 0 No comment ATP13A2 99.17 0 No comment ATP1A2 100.00 0 No comment ATP2A2 100.00 0 No comment ATP6AP2 99.95 0 No comment ATP6V0A2 100.00 0 No comment ATP7A 100.00 0 No comment ATP8A2 99.93 0 No comment ATRX 100.00 0 No comment ATXN1 100.00 0 No comment AUH 96.44 0 No comment AUTS2 98.20 0 No comment NLRP3 100.00 0 No comment AVPR2 100.00 0 No comment AXIN1 100.00 0 No comment B3GLCT 94.89 0 No comment B4GALT1 100.00 0 No comment B4GALT7 93.23 0 No comment BBS1 100.00 0 No comment BBS10 100.00 0 No comment BBS12 100.00 0 No comment BBS2 100.00 0 No comment BBS4 100.00 0 No comment BBS5 100.00 0 No comment BBS7 100.00 0 No comment BBS9 100.00 0 No comment BCKDHA 100.00 0 No comment BCKDHB 100.00 0 No comment BCL11A 100.00 0 No comment BCOR 100.00 0 No comment BCS1L 100.00 0 No comment BIN1 100.00 0 No comment BIRC6 100.00 0 No comment BLM 100.00 0 No comment BRAF 96.97 0 No comment BRCA2 100.00 0 No comment BRIP1 100.00 0 No comment BRWD3 100.00 0 No comment BSCL2 100.00 0 No comment BTD 100.00 0 No comment BUB1B 100.00 0 No comment C12ORF57 100.00 0 No comment MTRFR 100.00 0 No comment CA2 100.00 0 No comment CA8 100.00 0 No comment CACNA1A 98.78 0 No comment CACNA1B 96.03 0 No comment CACNA1C 100.00 0 No comment CACNA1D 100.00 0 No comment CACNA1F 99.89 0 No comment CACNA1G 100.00 0 No comment CACNA1H 97.35 0 No comment CACNA2D3 98.60 0 No comment CACNB2 100.00 0 No comment CACNG2 100.00 0 No comment CALM1 100.00 0 No comment CAMK2B 99.93 0 No comment CAMTA1 99.39 0 No comment CANT1 100.00 0 No comment CASK 100.00 0 No comment CBL 100.00 0 No comment CBS 100.00 0 No comment CC2D1A 100.00 0 No comment CC2D2A 98.16 0 No comment CCAR2 100.00 0 No comment CCBE1 99.97 0 No comment CCDC22 99.93 0 No comment CCDC39 100.00 0 No comment CCDC78 100.00 0 No comment CCDC88C 99.92 0 No comment CCNT1 100.00 0 No comment CCSER1 100.00 0 No comment CD163L1 100.00 0 No comment CDH15 97.06 0 No comment CDK5RAP2 100.00 0 No comment CDK6 100.00 0 No comment CDKL5 100.00 0 No comment CDKN1C 62.25 0 No comment CDON 100.00 0 No comment CELSR1 93.72 0 No comment CENPE 100.00 0 No comment CENPJ 100.00 0 No comment CEP135 100.00 0 No comment CEP152 100.00 0 No comment CEP290 99.99 0 No comment CEP41 100.00 0 No comment CEP55 100.00 0 No comment CEP57 100.00 0 No comment CFAP53 100.00 0 No comment CHAMP1 100.00 0 No comment CHAT 100.00 0 No comment CHD1 100.00 0 No comment CHD2 100.00 0 No comment CHD3 97.58 0 No comment CHD7 100.00 0 No comment CHD8 100.00 0 No comment CHKB 99.69 0 No comment CHRNA2 100.00 0 No comment CHRNA4 97.18 0 No comment CHRND 100.00 0 No comment CIC 99.99 0 No comment CLCN4 100.00 0 No comment CLCN7 94.99 0 No comment CLCNKB 100.00 0 No comment CLIC2 100.00 0 No comment CLIP1 100.00 0 No comment CLN3 100.00 0 No comment CLN5 99.94 0 No comment CLN6 90.35 0 No comment CLN8 100.00 0 No comment CLTC 100.00 0 No comment CMIP 99.97 0 No comment CNKSR2 100.00 0 No comment CNOT1 100.00 0 No comment CNOT3 100.00 0 No comment CNOT4 100.00 0 No comment CNOT6 100.00 0 No comment CNTN3 100.00 0 No comment CNTN4 100.00 0 No comment CNTNAP2 99.85 0 No comment COG1 99.24 0 No comment COG5 100.00 0 No comment COG6 100.00 0 No comment COG7 100.00 0 No comment COG8 100.00 0 No comment COL11A1 100.00 0 No comment COL1A2 99.93 0 No comment COL4A1 98.71 0 No comment COL4A2 100.00 0 No comment CERT1 100.00 0 No comment COLEC11 100.00 0 No comment COQ2 97.15 0 No comment COQ8A 100.00 0 No comment COX10 100.00 0 No comment COX15 100.00 0 No comment CP 100.00 0 No comment CYP2A6 100.00 0 No comment CPLANE1 100.00 0 No comment CYP21A2 100.00 0 No comment CRADD 100.00 0 No comment CRBN 100.00 0 No comment CREB1 100.00 0 No comment CREBBP 100.00 0 No comment CRPPA 95.75 0 No comment CSTF2T 100.00 0 No comment CTC1 100.00 0 No comment CTCF 100.00 0 No comment CTDP1 89.61 0 No comment CTNNB1 100.00 0 No comment CTNND2 93.57 0 No comment CTSA 100.00 0 No comment CTSD 99.45 0 No comment CTTNBP2 99.32 0 No comment CUBN 100.00 0 No comment CUL3 100.00 0 No comment CUL4B 100.00 0 No comment CUL5 100.00 0 No comment CUX2 100.00 0 No comment CYB5R3 96.25 0 No comment CYFIP1 100.00 0 No comment CYP27A1 99.68 0 No comment D2HGDH 100.00 0 No comment DAB1 100.00 0 No comment DAG1 100.00 0 No comment DAGLA 100.00 0 No comment DARS2 100.00 0 No comment DBT 100.00 0 No comment DCAF17 96.47 0 No comment DCLK2 100.00 0 No comment DCX 100.00 0 No comment DDHD2 100.00 0 No comment DDX11 100.00 0 No comment DDX3X 100.00 0 No comment DEAF1 87.03 0 No comment DHCR24 99.96 0 No comment DHCR7 100.00 0 No comment DHDDS 100.00 0 No comment DHFR 99.48 0 No comment DHTKD1 99.98 0 No comment DHX9 100.00 0 No comment DIAPH1 99.15 0 No comment DIAPH3 100.00 0 No comment DIP2A 99.92 0 No comment DIP2B 99.88 0 No comment DIPK2A 99.79 0 No comment DISC1 86.36 0 No comment DKC1 100.00 0 No comment DLD 100.00 0 No comment DLG2