List of diseases covered by Brain malformations NGS panel

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,
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