List of diseases covered by
Brain malformations NGS panel
| Gene | Condition |
| ACTB | Baraitser-Winter syndrome 1; Dystonia, juvenile-onset |
| ACTG1 | Baraitser-Winter syndrome 2 |
| ADGRG1 | Polymicrogyria, bilateral frontoparietal; Polymicrogyria, bilateral perisylvian |
| AHI1 | Joubert syndrome 3 |
| AKT1 | Cowden syndrome 6 |
| AKT3 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
| AMPD2 | Pontocerebellar hypoplasia, type 9; Spastic paraplegia 63 |
| AMT | Glycine encephalopathy |
| ANKLE2 | Microcephaly 16, primary, autosomal recessive |
| APC2 | Cortical dysplasia, complex, with other brain malformations 10; Sotos syndrome 3 |
| AP4B1 | Spastic paraplegia 47 |
| AP4E1 | Spastic paraplegia 51; Stuttering, familial persistent, 1 |
| AP4M1 | Spastic paraplegia 50, autosomal recessive |
| AP4S1 | Spastic paraplegia 52, autosomal recessive |
| ARFGEF2 | Periventricular heterotopia with microcephaly |
| ARL13B | Joubert syndrome 8 |
| ARX | Epileptic encephalopathy, early infantile, 1; Lissencephaly, X-linked 2; Mental retardation, X-linked 29 and others; Partington syndrome; Proud syndrome |
| ASNS | Asparagine synthetase deficiency |
| ASPM | Microcephaly 5, primary, autosomal recessive |
| ATP6V0A2 | Cutis laxa, autosomal recessive, type IIA; Wrinkly skin syndrome |
| ATR | Seckel syndrome 1; Cutaneous telangiectasia and cancer syndrome, familial |
| ATRX | Mental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndrome; Alpha-thalassemia myelodysplasia syndrome, somatic |
| B9D1 | Joubert syndrome 27; Meckel syndrome 9 |
| B9D2 | Joubert syndrome 34; Meckel syndrome 10 |
| BICD2 | Spinal muscular atrophy, lower extremity-predominant, 2A; Spinal muscular atrophy, lower extremity-predominant, 2B |
| B3GALNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 |
| B3GNT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 |
| CASK | Mental retardation, with or without nystagmus; Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
| C2CD3 | Orofaciodigital syndrome XIV |
| CC2D2A | COACH syndrome; Joubert syndrome 9; Meckel syndrome 6 |
| CCDC22 | Ritscher-Schinzel syndrome 2 |
| CCND2 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 |
| CDC45 | Meier-Gorlin syndrome 7 |
| CDC6 | Meier-Gorlin syndrome 5 |
| CDK6 | Microcephaly 12, primary |
| CDK5RAP2 | Microcephaly 3, primary, autosomal recessive |
| CDON | Holoprosencephaly 11 |
| CDT1 | Meier-Gorlin syndrome 4 |
| CENPE | Microcephaly 13, primary |
| CENPF | Stromme syndrome |
| CENPJ | Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4 |
| CEP120 | Joubert syndrome 31; Short-rib thoracic dysplasia 13 with or without polydactyly |
| CEP135 | Microcephaly 8, primary, autosomal recessive |
| CEP290 | Senior-Loken syndrome 6; Meckel syndrome 4; Joubert syndrome 5 |
| CEP152 | Microcephaly 9, primary, autosomal recessive; Seckel syndrome 5 |
| CEP63 | Seckel syndrome 6 |
| CEP41 | Joubert syndrome 15 |
| CHD7 | CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia |
| CHMP1A | Pontocerebellar hypoplasia, type 8 |
| CIT | Microcephaly 17, primary |
| CLP1 | Pontocerebellar hypoplasia, type 10 |
| COL18A1 | Knobloch syndrome, type 1 |
| COL3A1 | Ehlers-Danlos syndrome, vascular type; Polymicrogyria with or without vascular-type EDS |
| COPB1 | Microcephaly 19, primary |
| C5orf42 | Orofaciodigital syndrome VI; Joubert syndrome 17 |
| CREBBP | Rubinstein-Taybi syndrome 1 |
| CSPP1 | Joubert syndrome 21 |
| CTNNA2 | Cortical dysplasia, complex, with other brain malformations 9 |
| CUL4B | Mental retardation, X-linked, syndromic 15 (Cabezas type) |
| DAG1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 |
| DCX | Lissencephaly, X-linked |
| DDX3X | Intellectual developmental disorder, syndrome, Snijders Blok type |
| DHCR7 | Smith-Lemli-Opitz syndrome |
| DHCR24 | Desmosterolosis |
| DISP1 | Chromosome 1q41-q42 deletion syndrome (Holoprosencephaly 10) |
| DLAT | Pyruvate dehydrogenase E2 deficiency |
| DLD | Dihydrolipoamide dehydrogenase deficiency |
| DLL1 | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures |
| DNA2 | Seckel syndrome 8; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 |
| DYNC1H1 | Mental retardation, autosomal dominant 13; Charcot-Marie-Tooth disease, axonal, type 20; Spinal muscular atrophy, lower extremity-predominant 1, AD |
| DYRK1A | Mental retardation, 7 |
| EML1 | Band heterotopia |
| EOMES | Bilateral perisylvian or diffuse polymicrogyria (brain finding) |
| EP300 | Rubinstein-Taybi syndrome 2; Menke-Hennekam syndrome 2 |
| ERCC6 | Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome, type B; De Sanctis-Cacchione syndrome |
| ETFA | Glutaric acidemia IIA |
| EFTUD2 | Mandibulofacial dysostosis, Guion-Almeida type |
| ERMARD | Periventricular nodular heterotopia 6 |
| ETFB | Glutaric acidemia IIB |
| ETFDH | Glutaric acidemia IIC |
| EXOSC3 | Pontocerebellar hypoplasia, type 1B |
| EXOSC8 | Pontocerebellar hypoplasia, type 1C |
| EZH2 | Weaver syndrome |
| FAT4 | Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 |
| FBXO11 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| FGF8 | Hypogonadotropic hypogonadism 6 with or without anosmia |
| FGFR1 | Hartsfield syndrome; Trigonocephaly 1; Hypogonadotropic hypogonadism 2 with or without anosmia |
| FIG4 | Charcot-Marie-Tooth disease, type 4J; Amyotrophic lateral sclerosis 11; Yunis-Varon syndrome; Polymicrogyria, bilateral temporooccipital |
| FKRP | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 |
| FKTN | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4; Cardiomyopathy, dilated, 1X |
| FLNA | FG syndrome 2; Cardiac valvular dysplasia, X-linked; Congenital short bowel syndrome; Frontometaphyseal dysplasia 1; Heterotopia, periventricular; Melnick-Needles syndrome; Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II; Terminal osseous dysplasia |
| FOXP2 | Speech-language disorder-1 |
| GCDH | Glutaricaciduria, type I |
| GCSH | Glycine encephalopathy |
| GLDC | Glycine encephalopathy |
| GMNN | Meier-Gorlin syndrome 6 |
| GMPPB | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 |
| GPSM2 | Chudley-McCullough syndrome |
| GRIN1 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures; Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| GRIN2B | Epileptic encephalopathy, early infantile, 27; Mental retardation, autosomal dominant 6 |
| GSX2 | Diencephalic-mesencephalic junction dysplasia syndrome 2 |
| HDAC8 | Cornelia de Lange syndrome 5 |
| IER3IP1 | Microcephaly, epilepsy, and diabetes syndrome |
| IFT172 | Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 |
| INPP5E | Mental retardation, truncal obesity, retinal dystrophy, and micropenis; Joubert syndrome 1 |
| ISPD | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 |
| KIF11 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
| KIF14 | Microcephaly 20, primary |
| KIF7 | Joubert syndrome 12; Hydrolethalus syndrome 2; Al-Gazali-Bakalinova syndrome |
| KIF2A | Cortical dysplasia, complex, with other brain malformations 3 |
| KIFBP | Goldberg-Shprintzen megacolon syndrome |
| KIF1BP | Goldberg-Shprintzen megacolon syndrome |
| KIF5C | Cortical dysplasia, complex, with other brain malformations 2 |
| KMT2A | Wiedemann-Steiner syndrome |
| KMT2D | Kabuki syndrome 1 |
| KNL1 | Microcephaly 4, primary, autosomal recessive |
| LAGE3 | Galloway-Mowat syndrome 2 |
| LAMA2 | Muscular dystrophy, congenital merosin-deficient |
| LAMB1 | Lissencephaly 5 |
| LAMC3 | Cortical malformations, occipital |
| LARGE1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 |
| LGI1 | Epilepsy, familial temporal lobe, 1 |
| MCM5 | Meier-Gorlin syndrome 8 |
| MCPH1 | Microcephaly 1, primary, autosomal recessive |
| MECP2 | Encephalopathy, neonatal severe; Mental retardation, X-linked syndromic, Lubs type; Mental retardation, X-linked, syndromic 13; Rett syndrome |
| MFSD2A | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities |
| MKS1 | Meckel syndrome 1; Joubert syndrome 28; Bardet-Biedl syndrome 13 |
| MTOR | Smith-Kingsmore syndrome |
| NACC1 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination |
| NBN | Nijmegen breakage syndrome; Aplastic anemia; Leukemia, acute lymphoblastic |
| NCAPD2 | Microcephaly 21, primary |
| NCAPD3 | Microcephaly 22, primary |
| NCAPH | Microcephaly 23, primary |
| NDE1 | Lissencephaly 4 (with microcephaly); Microhydranencephaly |
| NEDD4L | Periventricular nodular heterotopia 7 |
| NHEJ1 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation |
| NIN | Seckel syndrome 7 |
| NPHP1 | Joubert syndrome 4; Nephronophthisis 1, juvenile; Senior-Loken syndrome-1 |
| NSMCE2 | Seckel syndrome 10 |
| NUP107 | Galloway-Mowat syndrome 7 |
| NUP133 | Galloway-Mowat syndrome 8 |
| NUP37 | Microcephaly 24, primary |
| OCLN | Pseudo-TORCH syndrome 1 |
| OFD1 | Joubert syndrome 10; Orofaciodigital syndrome I; Simpson-Golabi-Behmel syndrome, type 2; Retinitis pigmentosa 23 |
| OPHN1 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance |
| ORC1 | Meier-Gorlin syndrome 1 |
| ORC4 | Meier-Gorlin syndrome 2 |
| ORC6 | Meier-Gorlin syndrome 3 |
| OSGEP | Galloway-Mowat syndrome 3 |
| PAFAH1B1 | Lissencephaly 1 |
| PCDH12 | Diencephalic-mesencephalic junction dysplasia syndrome 1 |
| PCNT | Microcephalic osteodysplastic primordial dwarfism, type II |
| PDE6D | Joubert syndrome 22 |
| PDHA1 | Pyruvate dehydrogenase E1-alpha deficiency |
| PDHB | Pyruvate dehydrogenase E1-beta deficiency |
| PDHX | Lacticacidemia due to PDX1 deficiency |
| PDP1 | Pyruvate dehydrogenase phosphatase deficiency |
| PEX1 | Heimler syndrome 1; Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B (NALD/IRD) |
| PEX2 | Peroxisome biogenesis disorder 5A (Zellweger); Peroxisome biogenesis disorder 5B |
| PEX3 | Peroxisome biogenesis disorder 10A (Zellweger); Peroxisome biogenesis disorder 10B |
| PEX5 | Peroxisome biogenesis disorder 2A (Zellweger); Peroxisome biogenesis disorder 2B; Rhizomelic chondrodysplasia punctata, type 5 |
| PEX6 | Heimler syndrome 2; Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B |
| PEX10 | Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B |
| PEX11B | Peroxisome biogenesis disorder 14B |
| PEX12 | Peroxisome biogenesis disorder 3A (Zellweger); Peroxisome biogenesis disorder 3B |
| PEX13 | Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B |
| PEX14 | Peroxisome biogenesis disorder 13A (Zellweger) |
| PEX16 | Peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B |
| PEX19 | Peroxisome biogenesis disorder 12A (Zellweger) |
| PEX26 | Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B |
| PHC1 | Microcephaly 11, primary |
| PHGDH | Neu-Laxova syndrome 1; Phosphoglycerate dehydrogenase deficiency |
| PIK3CA | Cowden syndrome 5 |
| PIEZO2 | Marden-Walker syndrome; Arthrogryposis, distal, type 3; Arthrogryposis, distal, type 5; Arthrogryposis, distal, with impaired proprioception and touch |
| PI4KA | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
| PIK3R2 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
| PLK4 | Microcephaly and chorioretinopathy, 2 |
| PMM2 | Congenital disorder of glycosylation, type Ia |
| PNKP | Ataxia-oculomotor apraxia 4; Microcephaly, seizures, and developmental delay |
| POC1B | Cone-rod dystrophy 20 |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy, type A, 3; Muscular dystrophy-dystroglycanopathy, type B, 3; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 |
| POMGNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 |
| POMK | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12; Muscular dystrophy-dystroglycanopathy, type A, 12 |
| POMT1 | Muscular dystrophy-dystroglycanopathy, type A, 1; Muscular dystrophy-dystroglycanopathy, type B, 1; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 |
| POMT2 | Muscular dystrophy-dystroglycanopathy, type A, 2; Muscular dystrophy-dystroglycanopathy, type B, 2; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 |
| PPP1R12A | Genitourinary and/or/brain malformation syndrome |
| PQBP1 | Renpenning syndrome |
| PSAT1 | Phosphoserine aminotransferase deficiency; Neu-Laxova syndrome 2 |
| PSPH | Phosphoserine phosphatase deficiency |
| PTEN | Cowden syndrome 1; Lhermitte-Duclos syndrome; Macrocephaly/autism syndrome |
| RAB18 | Warburg micro syndrome 3 |
| RAB3GAP1 | Warburg micro syndrome 1 |
| RAB3GAP2 | Martsolf syndrome; Warburg micro syndrome 2 |
| RAD21 | Mungan syndrome; Cornelia de Lange syndrome 4 |
| RARS2 | Pontocerebellar hypoplasia, type 6 |
| RBBP8 | Jawad syndrome; Seckel syndrome 2 |
| RELN | Lissencephaly 2 (Norman-Roberts type), |
| RPGRIP1L | COACH syndrome; Joubert syndrome 7; Meckel syndrome 5 |
| RTTN | Microcephaly, short stature, and polymicrogyria with seizures |
| RXYLT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 |
| SASS6 | Microcephaly 14, primary |
| SEC23B | Cowden syndrome 7 |
| SEPSECS | Pontocerebellar hypoplasia type 2D |
| SHH | Holoprosencephaly 3; Microphthalmia with coloboma 5; Schizencephaly; Single median maxillary central incisor |
| SIX3 | Holoprosencephaly 2; Schizencephaly |
| SLC12A6 | Agenesis of the corpus callosum with peripheral neuropathy |
| SLC25A19 | Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 |
| SLC25A46 | Neuropathy, hereditary motor and sensory, type VIB |
| SLC9A6 | Mental retardation, X-linked syndromic, Christianson type |
| SMC1A | Cornelia de Lange syndrome 2; Epileptic encephalopathy, early infantile, 85, with or without midline brain defects |
| SMC3 | Cornelia de Lange syndrome 3 |
| SNAP29 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |
| SRD5A3 | Congenital disorder of glycosylation, type Iq; Kahrizi syndrome |
| SRPX2 | Rolandic epilepsy, mental retardation, and speech dyspraxia |
| STAG2 | Holoprosencephaly 13; Mullegama-Klein-Martinez syndrome |
| STAMBP | Microcephaly-capillary malformation syndrome |
| STIL | Microcephaly 7, primary, autosomal recessive |
| TBC1D20 | Warburg micro syndrome 4 |
| TCF4 | Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 |
| TCTN1 | Joubert syndrome 13 |
| TCTN2 | Joubert syndrome 24; Meckel syndrome 8 |
| TCTN3 | Joubert syndrome 18; Orofaciodigital syndrome IV |
| TGIF1 | Holoprosencephaly 4 |
| TMEM231 | Joubert syndrome 20; Meckel syndrome 11 |
| TMEM237 | Joubert syndrome 14 |
| TMEM216 | Joubert syndrome 2; Meckel syndrome 2 |
| TMEM138 | Joubert syndrome 16 |
| TMEM67 | Joubert syndrome 6; Meckel syndrome 3; COACH syndrome; Nephronophthisis 11 |
| TMEM5 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 |
| TP53RK | Galloway-Mowat syndrome 4 |
| TPRKB | Galloway-Mowat syndrome 5 |
| TRAIP | Seckel syndrome 9 |
| TSEN2 | Pontocerebellar hypoplasia type 2B |
| TSEN34 | Pontocerebellar hypoplasia type 2C |
| TSEN54 | Pontocerebellar hypoplasia type 5; Pontocerebellar hypoplasia type 2A; Pontocerebellar hypoplasia type 4 |
| TTC21B | Nephronophthisis 12; Short-rib thoracic dysplasia 4 with or without polydactyly |
| TUBA1A | Lissencephaly 3 |
| TUBA8 | Cortical dysplasia, complex, with other brain malformations 8 |
| TUBB | Cortical dysplasia, complex, with other brain malformations 6; Symmetric circumferential skin creases, congenital, 1 |
| TUBB2A | Cortical dysplasia, complex, with other brain malformations 5 |
| TUBB2B | Cortical dysplasia, complex, with other brain malformations 7 |
| TUBB3 | Cortical dysplasia, complex, with other brain malformations 1; Fibrosis of extraocular muscles, congenital, 3A |
| TUBB4A | Dystonia 4, torsion, autosomal dominant |
| TUBG1 | Cortical dysplasia, complex, with other brain malformations 4 |
| TUBGCP4 | Microcephaly and chorioretinopathy, autosomal recessive, 3 |
| TUBGCP6 | Microcephaly and chorioretinopathy, autosomal recessive, 1 |
| VLDLR | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 |
| VRK1 | Pontocerebellar hypoplasia type 1A |
| WASHC5 | Ritscher-Schinzel syndrome 1; Spastic paraplegia 8, autosomal dominant |
| WDFY3 | Microcephaly 18, primary; Galloway-Mowat syndrome 6 |
| WDR4 | alloway-Mowat syndrome 6 |
| WDR62 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations |
| WDR73 | Galloway-Mowat syndrome 1 (spinocerebellar ataxia, autosomal recessive 5) |
| ZEB2 | Mowat-Wilson syndrome |
| ZIC2 | Holoprosencephaly 5 |
| ZNF335 | Microcephaly 10, primary |
| ZNF423 | Joubert syndrome 19 |