List of diseases covered by
Brain malformations NGS panel

Gene Condition
ACTB Baraitser-Winter syndrome 1; Dystonia, juvenile-onset
ACTG1 Baraitser-Winter syndrome 2/td>
ADGRG1 Polymicrogyria, bilateral frontoparietal;
Polymicrogyria, bilateral perisylvian
AHI1 Joubert syndrome 3
AKT3 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
AMPD2 Pontocerebellar hypoplasia, type 9; Spastic paraplegia 63
AMT Glycine encephalopathy
AP4M1 Spastic paraplegia 50, 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
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
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
CC2D2A COACH syndrome; Joubert syndrome 9; Meckel syndrome 6
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus
syndrome 3
CDK5RAP2 Microcephaly 3, primary, autosomal recessive
CENPJ Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4
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
CHMP1A Pontocerebellar hypoplasia, type 8
CLP1 Pontocerebellar hypoplasia, type 10
C5orf42 Orofaciodigital syndrome VI; Joubert syndrome 17
CREBBP Rubinstein-Taybi syndrome 1
CUL4B Mental retardation, X-linked, syndromic 15 (Cabezas type)
DCX Lissencephaly, X-linked
DHCR7 Smith-Lemli-Opitz syndrome
DHCR24 Desmosterolosis
DLAT Pyruvate dehydrogenase E2 deficiency
DLD Dihydrolipoamide dehydrogenase deficiency
DYNC1H1 Mental retardation, autosomal dominant 13;
Charcot-Marie-Tooth disease, axonal, type 20;
Spinal muscular atrophy, lower extremity-predominant 1, AD
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
FAT4 Van Maldergem syndrome 2;
Hennekam lymphangiectasia-lymphedema syndrome 2
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
GCSH Glycine encephalopathy
GLDC Glycine encephalopathy
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
(congenital with mental retardation), type B, 14;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
GPSM2 Chudley-McCullough syndrome
IER3IP1 Microcephaly, epilepsy, and diabetes syndrome
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
KIF7 Joubert syndrome 12; Hydrolethalus syndrome 2;
Hydrolethalus syndrome 2; Al-Gazali-Bakalinova syndrome
KIF2A Cortical dysplasia, complex, with other brain malformations 3
KIF1BP Goldberg-Shprintzen megacolon syndrome
KIF5C Cortical dysplasia, complex, with other brain malformations 2
KNL1 Microcephaly 4, primary, autosomal recessive
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
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
MKS1 Meckel syndrome 1; Joubert syndrome 28; Bardet-Biedl syndrome 13
NBN Nijmegen breakage syndrome; Aplastic anemia;
Leukemia, acute lymphoblastic
NDE1 Lissencephaly 4 (with microcephaly); Microhydranencephaly
NHEJ1 Severe combined immunodeficiency with microcephaly,
growth retardation, and sensitivity to ionizing radiation
NPHP1 Joubert syndrome 4; Nephronophthisis 1, juvenile;
Senior-Loken syndrome-1
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
PAFAH1B1 Lissencephaly 1
PCNT Microcephalic osteodysplastic primordial dwarfism, type II
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
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
PIEZO2 Marden-Walker syndrome; Arthrogryposis, distal, type 3;
Arthrogryposis, distal, type 5;
Arthrogryposis, distal, with impaired proprioception and touch
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus
syndrome 1
PNKP Ataxia-oculomotor apraxia 4;
Microcephaly, seizures, and developmental delay
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
PQBP1 Renpenning syndrome
RAB18 Warburg micro syndrome 3
RAB3GAP1 Warburg micro syndrome 1
RAB3GAP2 Martsolf syndrome; Warburg micro syndrome 2
RARS2 Pontocerebellar hypoplasia, type 6
RELN Lissencephaly 2 (Norman-Roberts type),
RPGRIP1L COACH syndrome; Joubert syndrome 7; Meckel syndrome 5
RTTN Microcephaly, short stature, and polymicrogyria with seizures
SEPSECS Pontocerebellar hypoplasia type 2D
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy
SLC25A19 Microcephaly, Amish type;
Thiamine metabolism dysfunction syndrome 4
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
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
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
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
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
WDR62 Microcephaly 2, primary, autosomal recessive,
with or without cortical malformations
ZEB2 Mowat-Wilson syndrome
ZNF423 Joubert syndrome 19