Malformations of cortical development_Superpanel (Version 4.88)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 181 Entitiess
Green Green List (high evidence)	ACTB Lissencephaly and Band Heterotopia v1.30	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 Lissencephaly and Band Heterotopia v1.30	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.48	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 Lissencephaly and Band Heterotopia v1.30	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 Periventricular Grey Matter Heterotopia v1.2	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 Periventricular Grey Matter Heterotopia v1.2	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 Polymicrogyria and Schizencephaly v0.204	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 Lissencephaly and Band Heterotopia v1.30	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 Lissencephaly and Band Heterotopia v1.30	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Lissencephaly and Band Heterotopia v1.30	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 Lissencephaly and Band Heterotopia v1.30	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 Polymicrogyria and Schizencephaly v0.204	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 Lissencephaly and Band Heterotopia v1.30	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 Lissencephaly and Band Heterotopia v1.30	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 Polymicrogyria and Schizencephaly v0.204	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 Lissencephaly and Band Heterotopia v1.30	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 Lissencephaly and Band Heterotopia v1.30	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 Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.48	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Cobblestone Malformations v1.1	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 Polymicrogyria and Schizencephaly v0.204	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 Lissencephaly and Band Heterotopia v1.30	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 Polymicrogyria and Schizencephaly v0.204	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436 Tags
Green Green List (high evidence)	CSMD1 Polymicrogyria and Schizencephaly v0.204	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 Lissencephaly and Band Heterotopia v1.30	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 Lissencephaly and Band Heterotopia v1.30	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)	DCHS1 Periventricular Grey Matter Heterotopia v1.2	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)	DCX Lissencephaly and Band Heterotopia v1.30	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 Polymicrogyria and Schizencephaly v0.204	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)	DEPDC5 Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.48	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)	DYNC1H1 Polymicrogyria and Schizencephaly v0.204	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 Lissencephaly and Band Heterotopia v1.30	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 Lissencephaly and Band Heterotopia v1.30	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 Polymicrogyria and Schizencephaly v0.204	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 Cobblestone Malformations v1.1	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 Cobblestone Malformations v1.1	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 Periventricular Grey Matter Heterotopia v1.2	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 complex neurodevelopmental disorder MONDO:0700350 Developmental and epileptic encephalopathy 27 MIM#616139 Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970 Tags
Green Green List (high evidence)	HNRNPK Periventricular Grey Matter Heterotopia v1.2	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 Polymicrogyria and Schizencephaly v0.204	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)	Miller-Dieker syndrome, chromosome 17p13.3 deletion syndrome ISCA-37430-Loss Region Lissencephaly and Band Heterotopia v1.30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Miller-Dieker lissencephaly syndrome, MIM# 247200 Tags
Green Green List (high evidence)	ISPD Lissencephaly and Band Heterotopia v1.30	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 Lissencephaly and Band Heterotopia v1.30	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Lissencephaly and Band Heterotopia v1.30	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 Lissencephaly and Band Heterotopia v1.30	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 Polymicrogyria and Schizencephaly v0.204	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 Cobblestone Malformations v1.1	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)	LAMA2 Lissencephaly and Band Heterotopia v1.30	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)	LAMB1 Lissencephaly and Band Heterotopia v1.30	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)	LAMB1 Cobblestone Malformations v1.1	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)	LAMC3 Polymicrogyria and Schizencephaly v0.204	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 Lissencephaly and Band Heterotopia v1.30	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 impaired intellectual development), type B, 6 MIM#608840 Tags
Green Green List (high evidence)	LARGE1 Cobblestone Malformations v1.1	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)	MACF1 Lissencephaly and Band Heterotopia v1.30	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 Polymicrogyria and Schizencephaly v0.204	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 Periventricular Grey Matter Heterotopia v1.2	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)	MAP1B Polymicrogyria and Schizencephaly v0.204	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)	MAPK8IP3 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.48	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 Lissencephaly and Band Heterotopia v1.30	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)	NDE1 Polymicrogyria and Schizencephaly v0.204	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Tags
Green Green List (high evidence)	NEDD4L Polymicrogyria and Schizencephaly v0.204	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)	NEDD4L Periventricular Grey Matter Heterotopia v1.2	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)	NFIA Polymicrogyria and Schizencephaly v0.204	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 Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.48	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 Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.48	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 Polymicrogyria and Schizencephaly v0.204	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 Lissencephaly and Band Heterotopia v1.30	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 Lissencephaly and Band Heterotopia v1.30	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Lissencephaly and Band Heterotopia v1.30	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Cobblestone Malformations v1.1	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 Cobblestone Malformations v1.1	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 Cobblestone Malformations v1.1	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 Cobblestone Malformations v1.1	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 Polymicrogyria and Schizencephaly v0.204	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 Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.48	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Lissencephaly and Band Heterotopia v1.30	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.48	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 Lissencephaly and Band Heterotopia v1.30	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)	SNAP29 Polymicrogyria and Schizencephaly v0.204	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)	TCP1 Polymicrogyria and Schizencephaly v0.204	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 Cobblestone Malformations v1.1	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 Lissencephaly and Band Heterotopia v1.30	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 Cobblestone Malformations v1.1	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 Polymicrogyria and Schizencephaly v0.204	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 Lissencephaly and Band Heterotopia v1.30	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 Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.48	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 Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.48	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 Polymicrogyria and Schizencephaly v0.204	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 Lissencephaly and Band Heterotopia v1.30	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 Tubulinopathies v1.2	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 Tubulinopathies v1.2	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)	TUBB Polymicrogyria and Schizencephaly v0.204	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Tags
Green Green List (high evidence)	TUBB2A Tubulinopathies v1.2	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 Polymicrogyria and Schizencephaly v0.204	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 Tubulinopathies v1.2	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 Polymicrogyria and Schizencephaly v0.204	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 Tubulinopathies v1.2	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 Tubulinopathies v1.2	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 Lissencephaly and Band Heterotopia v1.30	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 Lissencephaly and Band Heterotopia v1.30	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.48	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 Polymicrogyria and Schizencephaly v0.204	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 Lissencephaly and Band Heterotopia v1.30	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)	FAT4 Periventricular Grey Matter Heterotopia v1.2	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 Polymicrogyria and Schizencephaly v0.204	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 Lissencephaly and Band Heterotopia v1.30	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 Periventricular Grey Matter Heterotopia v1.2	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Lissencephaly and Band Heterotopia v1.30	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Lissencephaly and Band Heterotopia v1.30	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	1 review	Unknown	Sources Expert Review Amber Literature Phenotypes Curry-Jones syndrome, somatic mosaic MIM#601707 Tags somatic
Amber Amber List (moderate evidence)	STRADA Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.48	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 Lissencephaly and Band Heterotopia v1.30	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 Tubulinopathies v1.2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Red Red List (low evidence)	B3GNT2 Lissencephaly and Band Heterotopia v1.30	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)	BAIAP2 Lissencephaly and Band Heterotopia v1.30	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Literature Phenotypes Developmental and epileptic encephalopathy 120, MIM# 621468 Tags
Red Red List (low evidence)	BICD2 Lissencephaly and Band Heterotopia v1.30	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 Polymicrogyria and Schizencephaly v0.204	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 Lissencephaly and Band Heterotopia v1.30	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 Cobblestone Malformations v1.1	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 Polymicrogyria and Schizencephaly v0.204	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)	EMX2 Polymicrogyria and Schizencephaly v0.204	1 review	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)	ENO1 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Periventricular Grey Matter Heterotopia v1.2	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	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 Lissencephaly and Band Heterotopia v1.30	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 Polymicrogyria and Schizencephaly v0.204	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 Polymicrogyria and Schizencephaly v0.204	2 reviews 2 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 refuted
Red Red List (low evidence)	SYNCRIP Periventricular Grey Matter Heterotopia v1.2	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 Polymicrogyria and Schizencephaly v0.204	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 Periventricular Grey Matter Heterotopia v1.2	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 Polymicrogyria and Schizencephaly v0.204	2 reviews 2 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 disputed
Red Red List (low evidence)	TUBA8 Tubulinopathies v1.2	2 reviews 2 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 disputed
Red Red List (low evidence)	TUBGCP4 Tubulinopathies v1.2	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

Malformations of cortical development_Superpanel (Version 4.88)

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