PanelApp
  1. Panels
  2. Malformations of cortical development_Superpanel
Description
Superpanel for malformations of cortical development, excluding the primary microcephaly genes which are on the Microcephaly panel.

179 Entities

168 reviewed, 123 green

List Entity Reviews Mode of inheritance Details
179 Entitiess
Green Green List (high evidence)
ACTB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Baraitser-Winter syndrome 1 (MIM#243310)
Tags
Green Green List (high evidence)
ACTG1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Baraitser-Winter syndrome 2 (MIM#614583)
Tags
Green Green List (high evidence)
ADGRG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Polymicrogyria, bilateral frontoparietal, MIM#606854
Tags
  • 5'UTR
Green Green List (high evidence)
AKT3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)
Tags
Green Green List (high evidence)
AKT3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Tags
Green Green List (high evidence)
APC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 10, MIM#618677
Tags
Green Green List (high evidence)
ARF1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Periventricular nodular heterotopia 8, MIM# 618185
Tags
Green Green List (high evidence)
ARFGEF2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Australian Genomics Health Alliance Brain Malformation Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Periventricular heterotopia with microcephaly (MIM#608097)
Tags
Green Green List (high evidence)
ARX
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Tags
Green Green List (high evidence)
ARX
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Lissencephaly, X-linked 2, MIM# 300215
Tags
Green Green List (high evidence)
ASPM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly 5, primary, autosomal recessive (MIM#608716)
Tags
Green Green List (high evidence)
ATP1A2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602
  • Developmental and epileptic encephalopathy 98 , MIM#619605
Tags
Green Green List (high evidence)
ATP1A3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • ATP1A3-associated neurological disorder, MONDO:0700002
Tags
Green Green List (high evidence)
B3GALNT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181
Tags
Green Green List (high evidence)
B4GAT1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287
Tags
Green Green List (high evidence)
BICD2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Spinal muscular atrophy, lower extremity-predominant, 2B. MIM: 618291
Tags
Green Green List (high evidence)
CAMSAP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316
Tags
Green Green List (high evidence)
CASP2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653
Tags
Green Green List (high evidence)
CCND2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938
Tags
Green Green List (high evidence)
CDK5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342
Tags
Green Green List (high evidence)
CEP85L
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lissencephaly, posterior predominant
Tags
Green Green List (high evidence)
CNTNAP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Cortical dysplasia-focal epilepsy syndrome, MIM# 610042
Tags
Green Green List (high evidence)
COL18A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Knobloch syndrome, type 1 MIM# 267750
Tags
Green Green List (high evidence)
COL3A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343
  • Ehlers-Danlos syndrome, vascular type, MIM# 130050
Tags
Green Green List (high evidence)
COL3A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, MIM # 618343
Tags
Green Green List (high evidence)
COL4A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • 1. Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 AD
  • 2. Brain small vessel disease with or without ocular anomalies, 175780, AD
  • 3. Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564, AD
  • 4. ?Retinal arteries, tortuosity of, 180000, AD
  • 5. {Hemorrhage, intracerebral, susceptibility to}, 614519
Tags
Green Green List (high evidence)
CRADD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499
Tags
Green Green List (high evidence)
CRNKL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex neurodevelopmental disorder, CRNKL1-related - MONDO:0100038
Tags
Green Green List (high evidence)
CSMD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038
Tags
Green Green List (high evidence)
CTNNA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 9, MIM#618174
Tags
Green Green List (high evidence)
DCHS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Australian Genomics Health Alliance Brain Malformation Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Van Maldergem syndrome 1, MIM# 601390
Tags
Green Green List (high evidence)
DCHS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Van Maldergem syndrome 1 (MIM#601390)
Tags
Green Green List (high evidence)
DCX
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Lissencephaly, X-linked, MIM# 300067
  • Subcortical laminal heterotopia, X-linked 300067
Tags
Green Green List (high evidence)
DEPDC5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Epilepsy, familial focal, with variable foci 1 (MIM#604364)
Tags
Green Green List (high evidence)
DEPDC5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092
Tags
Green Green List (high evidence)
DYNC1H1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Tags
Green Green List (high evidence)
DYNC1H1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Mental retardation, autosomal dominant 13, MIM# 614563
Tags
Green Green List (high evidence)
EML1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Band heterotopia (MIM# 600348)
Tags
Green Green List (high evidence)
EML1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Band heterotopia (MIM# 600348)
Tags
Green Green List (high evidence)
FKRP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM# 613153
Tags
Green Green List (high evidence)
FKTN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, MIM# 253800
Tags
Green Green List (high evidence)
FLNA
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Australian Genomics Health Alliance Brain Malformation Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Heterotopia, periventricular, 1 , MIM#300049
Tags
Green Green List (high evidence)
GPSM2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chudley-McCullough syndrome MIM#604213
Tags
Green Green List (high evidence)
GRIN1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254
Tags
Green Green List (high evidence)
GRIN2B
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • GRIN2B-related neurodevelopmental disorder
  • Mental retardation, autosomal dominant 6, MIM# 613970
Tags
Green Green List (high evidence)
HNRNPK
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Au-Kline syndrome MIM#616580
Tags
Green Green List (high evidence)
HSD17B4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • D-bifunctional protein deficiency - MIM#261515
Tags
Green Green List (high evidence)
ISPD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643
Tags
  • new gene name
Green Green List (high evidence)
KATNB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lissencephaly 6, with microcephaly, MIM# 616212
Tags
Green Green List (high evidence)
KIF1BP
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Goldberg-Shprintzen megacolon syndrome MIM#609460
Tags
  • new gene name
Green Green List (high evidence)
KIF26A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156
Tags
Green Green List (high evidence)
KIF2A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411
Tags
Green Green List (high evidence)
KIF5C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282
Tags
Green Green List (high evidence)
KIF5C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282
Tags
Green Green List (high evidence)
LAMA2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • LAMA2-related muscular dystrophy
  • Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
Tags
Green Green List (high evidence)
LAMA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
Tags
Green Green List (high evidence)
LAMB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Lissencephaly 5, MIM# 615191
Tags
Green Green List (high evidence)
LAMB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Lissencephaly 5, MIM# 615191
Tags
Green Green List (high evidence)
LAMC3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Cortical malformations, occipital, MIM#614115
Tags
Green Green List (high evidence)
LARGE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154
Tags
Green Green List (high evidence)
LARGE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840
Tags
Green Green List (high evidence)
MACF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lissencephaly 9 with complex brainstem malformation, MIM# 618325
Tags
Green Green List (high evidence)
MAN2C1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Research
  • Literature
Phenotypes
  • Congenital disorder of deglycosylation 2, MIM# 619775
Tags
Green Green List (high evidence)
MAP1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Intellectual disability
  • seizures
  • PVNH
  • dysmorphic features
  • Periventricular nodular heterotopia 9, MIM# 618918
Tags
Green Green List (high evidence)
MAP1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Australian Genomics Health Alliance Brain Malformation Flagship
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Intellectual disability
  • seizures
  • PVNH
  • dysmorphic features
  • Periventricular nodular heterotopia 9, MIM# 618918
Tags
Green Green List (high evidence)
MAPK8IP3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Tags
Green Green List (high evidence)
MAST1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MIM# 618273
Tags
Green Green List (high evidence)
MTOR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Smith-Kingsmore syndrome, MIM# 616638
Tags
Green Green List (high evidence)
NDE1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Tags
Green Green List (high evidence)
NDE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116
Tags
Green Green List (high evidence)
NEDD4L
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Australian Genomics Health Alliance Brain Malformation Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Periventricular nodular heterotopia 7, MIM# 617201
Tags
Green Green List (high evidence)
NEDD4L
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Periventricular nodular heterotopia 7, MIM# 617201
  • polymicrogyria
  • syndactyly
Tags
Green Green List (high evidence)
NFIA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Brain malformations with or without urinary tract defects, MIM#613735
Tags
Green Green List (high evidence)
NPRL2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Epilepsy, familial focal, with variable foci 2- MIM#617116
Tags
Green Green List (high evidence)
NPRL3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Epilepsy, familial focal, with variable foci 3 (MIM#617118)
Tags
Green Green List (high evidence)
OCLN
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Tags
Green Green List (high evidence)
OSGEP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Galloway-Mowat syndrome 3, MIM#617729
Tags
Green Green List (high evidence)
PAFAH1B1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Lissencephaly 1, MIM# 607432
  • Subcortical laminar heterotopia, MIM# 607432
  • MONDO:0011830
Tags
  • SV/CNV
Green Green List (high evidence)
PEX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 1A (Zellweger) (MIM#214100)
Tags
Green Green List (high evidence)
PEX6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)
Tags
Green Green List (high evidence)
PIDD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827
Tags
Green Green List (high evidence)
PIK3CA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Tags
Green Green List (high evidence)
PIK3R2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Tags
Green Green List (high evidence)
POMGNT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, MIM# 253280
Tags
Green Green List (high evidence)
POMGNT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830
Tags
Green Green List (high evidence)
POMT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670
Tags
Green Green List (high evidence)
POMT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150
Tags
Green Green List (high evidence)
PTEN
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Macrocephaly/autism syndrome, MIM# 605309
Tags
Green Green List (high evidence)
PTEN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Cowden syndrome 1 158350
  • Lhermitte-Duclos syndrome 158350
  • Macrocephaly/autism syndrome 605309
Tags
Green Green List (high evidence)
RAB18
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Warburg micro syndrome 3, MIM# 614222
Tags
Green Green List (high evidence)
RAB3GAP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Warburg micro syndrome 1, MIM# 600118
Tags
Green Green List (high evidence)
RAB3GAP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Warburg micro syndrome 2 614225
Tags
Green Green List (high evidence)
RAC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 48 MIM#617751
Tags
Green Green List (high evidence)
RAC3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577
Tags
Green Green List (high evidence)
RELN
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Lissencephaly 2 (Norman-Roberts type), MIM# 257320
Tags
Green Green List (high evidence)
RTTN
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Tags
Green Green List (high evidence)
SCN3A
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polymicrogyria
  • epileptic encephalopathy
Tags
Green Green List (high evidence)
SHMT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121
  • Congenital microcephaly
  • Infantile axial hypotonia
  • Spastic paraparesis
  • Global developmental delay
  • Intellectual disability
  • Abnormality of the corpus callosum
  • Abnormal cortical gyration
  • Hypertrophic cardiomyopathy
  • Abnormality of the face
  • Proximal placement of thumb
  • 2-3 toe syndactyly
Tags
Green Green List (high evidence)
SLC35A2
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Tags
  • somatic
Green Green List (high evidence)
SNAP29
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)
Tags
Green Green List (high evidence)
SNAP29
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)
Tags
Green Green List (high evidence)
TCP1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021
Tags
Green Green List (high evidence)
TMEM5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041
Tags
  • new gene name
Green Green List (high evidence)
TMEM5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041
Tags
  • new gene name
Green Green List (high evidence)
TMTC3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Lissencephaly 8 (MIM#617255)
Tags
Green Green List (high evidence)
TMX2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730
Tags
Green Green List (high evidence)
TP73
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466
  • brain malformation
  • lissencephaly
Tags
Green Green List (high evidence)
TSC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Tuberous sclerosis-1, 191100
  • Autosomal dominant Focal cortical dysplasia, type II, somatic, 607341
Tags
  • SV/CNV
Green Green List (high evidence)
TSC2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Tuberous sclerosis-2, MIM# 613254
Tags
Green Green List (high evidence)
TUBA1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Lissencephaly 3, MIM#611603
Tags
Green Green List (high evidence)
TUBA1A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Tags
Green Green List (high evidence)
TUBA1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Tags
Green Green List (high evidence)
TUBB
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Tags
Green Green List (high evidence)
TUBB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771
Tags
Green Green List (high evidence)
TUBB2A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763
Tags
Green Green List (high evidence)
TUBB2B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Tags
Green Green List (high evidence)
TUBB2B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031
Tags
Green Green List (high evidence)
TUBB3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Tags
Green Green List (high evidence)
TUBB3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039
Tags
Green Green List (high evidence)
TUBG1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412
Tags
Green Green List (high evidence)
TUBGCP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lissencephaly
  • pachygyria
  • subcortical band heterotopia
  • microcephaly
  • intellectual disability
Tags
Green Green List (high evidence)
VLDLR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (MIM#224050)
Tags
Green Green List (high evidence)
WDR62
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317
  • MONDO:0011435
Tags
Amber Amber List (moderate evidence)
AHI1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Joubert syndrome 3, MIM# 608629
Tags
Amber Amber List (moderate evidence)
ASTN1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Polymicrogyria
  • hypoplastic corpus callosum
Tags
Amber Amber List (moderate evidence)
BRAF
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • RASopathies
  • Focal cortical dysplasia
Tags
  • somatic
Amber Amber List (moderate evidence)
COL4A2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Brain small vessel disease 2, MIM#614483
Tags
Amber Amber List (moderate evidence)
CSNK2A1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Okur-Chung neurodevelopmental syndrome (MIM#617062)
Tags
Amber Amber List (moderate evidence)
EMX2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Schizencephaly MIM# 269160
Tags
  • disputed
Amber Amber List (moderate evidence)
FAT4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Australian Genomics Health Alliance Brain Malformation Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Van Maldergem syndrome 2, MIM# 615546
Tags
Amber Amber List (moderate evidence)
FIG4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Polymicrogyria with epilepsy MIM# 612691
Tags
Amber Amber List (moderate evidence)
GMPPB
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350)
  • Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351)
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)
Tags
Amber Amber List (moderate evidence)
KAT6B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • SBBYSS syndrome MIM #603736
  • Genitopatellar syndrome MIM #606170
Tags
Amber Amber List (moderate evidence)
L1CAM
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • L1CAM-related disease
Tags
Amber Amber List (moderate evidence)
MED25
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449
Tags
Amber Amber List (moderate evidence)
MFN2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial disease, MONDO:0044970, MFN2-related
Tags
Amber Amber List (moderate evidence)
MFN2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial disease, MONDO:0044970, MFN2-related
Tags
Amber Amber List (moderate evidence)
NHEJ1
1 review
 Unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (MIM# 611291)
Tags
Amber Amber List (moderate evidence)
NSDHL
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • CK syndrome 300831
Tags
Amber Amber List (moderate evidence)
NSDHL
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • CK syndrome 300831
Tags
Amber Amber List (moderate evidence)
PAX6
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • ?Coloboma of optic nerve MIM# 120430
  • ?Coloboma, ocular MIM# 120200
  • ?Morning glory disc anomaly MIM# 120430
  • Aniridia MIM# 106210
  • Anterior segment dysgenesis 5, multiple subtypes MIM# 604229
  • Cataract with late-onset corneal dystrophy MIM# 106210
  • Foveal hypoplasia 1 MIM# 136520
  • Keratitis MIM# 148190
  • Optic nerve hypoplasia MIM# 165550
Tags
Amber Amber List (moderate evidence)
PEX10
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870)
Tags
Amber Amber List (moderate evidence)
PEX12
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859)
Tags
Amber Amber List (moderate evidence)
PEX13
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883)
Tags
Amber Amber List (moderate evidence)
PEX14
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876
Tags
Amber Amber List (moderate evidence)
PEX16
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876
Tags
Amber Amber List (moderate evidence)
PEX19
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886
Tags
Amber Amber List (moderate evidence)
PEX2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866
Tags
Amber Amber List (moderate evidence)
PEX26
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872
Tags
Amber Amber List (moderate evidence)
PEX3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 10A (Zellweger) 614882
Tags
Amber Amber List (moderate evidence)
PEX5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110)
Tags
Amber Amber List (moderate evidence)
PI4KA
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531
Tags
Amber Amber List (moderate evidence)
SMO
1 review
 Unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Curry-Jones syndrome, somatic mosaic MIM#601707
Tags
  • somatic
Amber Amber List (moderate evidence)
STRADA
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy (MIM#611087)
Tags
Amber Amber List (moderate evidence)
TMX2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730
Tags
Amber Amber List (moderate evidence)
TTL
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038
Tags
Red Red List (low evidence)
B3GNT2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Muscular dystrophy-dystroglycanopathy
Tags
Red Red List (low evidence)
BICD2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), BICD2-related
Tags
Red Red List (low evidence)
CEP83
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nephronophthisis 18, MIM# 615862
Tags
Red Red List (low evidence)
CLASP1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, CLASP1-related
Tags
Red Red List (low evidence)
DAG1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Walker-Warburg syndrome associated with tectocerebellar dysraphia
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)
Tags
Red Red List (low evidence)
DAG1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)
Tags
Red Red List (low evidence)
ENO1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Polymicrogyria, MONDO:0000087, ENO1-related
Tags
Red Red List (low evidence)
EOMES
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Microcephaly, MONDO:0001149, EOMES-related
Tags
Red Red List (low evidence)
ERMARD
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Australian Genomics Health Alliance Brain Malformation Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Periventricular nodular heterotopia 6, MIM#615544
Tags
Red Red List (low evidence)
INTS8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572
Tags
Red Red List (low evidence)
MCF2
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Perisylvian polymicrogyria
Tags
Red Red List (low evidence)
PEX11B
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ?Peroxisome biogenesis disorder 14B (MIM#614920)
Tags
Red Red List (low evidence)
SHH
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Schizencephaly (MIM#269160)
Tags
  • disputed
Red Red List (low evidence)
SIX3
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Tags
Red Red List (low evidence)
SRD5A3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Congenital disorder of glycosylation, type Iq (MIM#612379)
Tags
Red Red List (low evidence)
SRD5A3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type Iq (MIM#612379)
Tags
Red Red List (low evidence)
SRPX2
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643
Tags
Red Red List (low evidence)
SYNCRIP
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • SYNCRIP-related neurodevelopmental disorder
Tags
Red Red List (low evidence)
TMEM216
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Joubert syndrome 2 (MIM#608091)
Tags
Red Red List (low evidence)
TMTC3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Lissencephaly 8 (MIM#617255)
Tags
Red Red List (low evidence)
TUBA8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Tags
Red Red List (low evidence)
TUBA8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Tags
Red Red List (low evidence)
TUBGCP4
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 3 (MIM#616335)
Tags

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