Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ACTB gene ACTB Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 1 (MIM#243310) Abnormal cerebral cortex morphology;HP:0002538 29671837;22366783 False 3 100;0;0 4.69 True ENSG00000075624 ENSG00000075624 HGNC:132 ACTG1 gene ACTG1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 2 (MIM#614583) Abnormal cerebral cortex morphology;HP:0002538 29671837;27240540;25052316 False 3 100;0;0 4.69 True ENSG00000184009 ENSG00000184009 HGNC:144 ADGRG1 gene ADGRG1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, bilateral frontoparietal, MIM#606854 Abnormal cerebral cortex morphology;HP:0002538 16240336 False 3 100;0;0 4.69 True ENSG00000205336 ENSG00000205336 HGNC:4512 AKT3 gene AKT3 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937 Abnormal cerebral cortex morphology;HP:0002538 22729224;22729223;32446860;31441589 False 3 100;0;0 4.69 True Other ENSG00000117020 ENSG00000117020 HGNC:393 AKT3 gene AKT3 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937) Abnormal cerebral cortex morphology;HP:0002538 28969385 False 3 100;0;0 4.69 True ENSG00000117020 ENSG00000117020 HGNC:393 APC2 gene APC2 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 10, MIM#618677 Abnormal cerebral cortex morphology;HP:0002538 31585108 False 3 100;0;0 4.69 True ENSG00000115266 ENSG00000115266 HGNC:24036 ARF1 gene ARF1 Expert Review Green;Expert list Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Periventricular nodular heterotopia 8, MIM# 618185" Abnormal cerebral cortex morphology;HP:0002538 28868155 False 3 100;0;0 4.69 True ENSG00000143761 ENSG00000143761 HGNC:652 ARFGEF2 gene ARFGEF2 Expert Review Green;Australian Genomics Health Alliance Brain Malformation Flagship;Victorian Clinical Genetics Services Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Periventricular heterotopia with microcephaly (MIM#608097) Abnormal cerebral cortex morphology;HP:0002538 25160555;26126837;23812912 False 3 100;0;0 4.69 True ENSG00000124198 ENSG00000124198 HGNC:15853 ARX gene ARX Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders Unknown Abnormal cerebral cortex morphology;HP:0002538 False 3 0;0;0 4.69 False ENSG00000004848 ENSG00000004848 HGNC:18060 ARX gene ARX Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lissencephaly, X-linked 2, MIM# 300215 Abnormal cerebral cortex morphology;HP:0002538 14722918 False 3 100;0;0 4.69 True ENSG00000004848 ENSG00000004848 HGNC:18060 ASPM gene ASPM Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Microcephaly 5, primary, autosomal recessive (MIM#608716)" Abnormal cerebral cortex morphology;HP:0002538 18452193;19332161;19770472;27250695 False 3 100;0;0 4.69 True ENSG00000066279 ENSG00000066279 HGNC:19048 ATP1A2 gene ATP1A2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602;Developmental and epileptic encephalopathy 98 , MIM#619605" Abnormal cerebral cortex morphology;HP:0002538 31608932;33880529 False 3 100;0;0 4.69 True ENSG00000018625 ENSG00000018625 HGNC:800 ATP1A3 gene ATP1A3 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polymicrogyria;epilepsy;developmental delay Abnormal cerebral cortex morphology;HP:0002538 33762331;33880529 False 3 100;0;0 4.69 True ENSG00000105409 ENSG00000105409 HGNC:801 B3GALNT2 gene B3GALNT2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181 Abnormal cerebral cortex morphology;HP:0002538 23453667 False 3 100;0;0 4.69 True ENSG00000162885 ENSG00000162885 HGNC:28596 B4GAT1 gene B4GAT1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287 Abnormal cerebral cortex morphology;HP:0002538 23359570;23877401;23359570;23217742 False 3 50;50;0 4.69 True ENSG00000174684 ENSG00000174684 HGNC:15685 BICD2 gene BICD2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant, 2B. MIM: 618291 Abnormal cerebral cortex morphology;HP:0002538 28635954;32057122 False 3 100;0;0 4.69 True ENSG00000185963 ENSG00000185963 HGNC:17208 CAMSAP1 gene CAMSAP1 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316 Abnormal cerebral cortex morphology;HP:0002538 36283405 False 3 100;0;0 4.69 True ENSG00000130559 ENSG00000130559 HGNC:19946 CASP2 gene CASP2 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653 Abnormal cerebral cortex morphology;HP:0002538 PMID: 37880421 False 3 100;0;0 4.69 True ENSG00000106144 ENSG00000106144 HGNC:1503 CCND2 gene CCND2 Expert Review Green;Expert list Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938 Abnormal cerebral cortex morphology;HP:0002538 24705253 False 3 100;0;0 4.69 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000118971 ENSG00000118971 HGNC:1583 CEP85L gene CEP85L Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly, posterior predominant Abnormal cerebral cortex morphology;HP:0002538 32097630 False 3 100;0;0 4.69 True ENSG00000111860 ENSG00000111860 HGNC:21638 CNTNAP2 gene CNTNAP2 Expert Review Green;Expert Review Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia-focal epilepsy syndrome, MIM# 610042 Abnormal cerebral cortex morphology;HP:0002538 16571880;19896112;27439707 False 3 100;0;0 4.69 True ENSG00000174469 ENSG00000174469 HGNC:13830 COL18A1 gene COL18A1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Knobloch syndrome, type 1 MIM# 267750 Abnormal cerebral cortex morphology;HP:0002538 25456301;19160445;17546652 False 3 100;0;0 4.69 True ENSG00000182871 ENSG00000182871 HGNC:2195 COL3A1 gene COL3A1 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343;Ehlers-Danlos syndrome, vascular type, MIM# 130050 Abnormal cerebral cortex morphology;HP:0002538 28742248;19455184;25205403 False 3 100;0;0 4.69 True ENSG00000168542 ENSG00000168542 HGNC:2201 COL3A1 gene COL3A1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, MIM # 618343 Abnormal cerebral cortex morphology;HP:0002538 28742248;19455184;25205403 False 3 100;0;0 4.69 True ENSG00000168542 ENSG00000168542 HGNC:2201 COL4A1 gene COL4A1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 Abnormal cerebral cortex morphology;HP:0002538 23065703;31719132 False 3 100;0;0 4.69 True ENSG00000187498 ENSG00000187498 HGNC:2202 CRADD gene CRADD Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499 Abnormal cerebral cortex morphology;HP:0002538 27773430 False 3 100;0;0 4.69 True ENSG00000169372 ENSG00000169372 HGNC:2340 CSMD1 gene CSMD1 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Abnormal cerebral cortex morphology;HP:0002538 PMID 38816421 False 3 100;0;0 4.69 True ENSG00000183117 ENSG00000183117 HGNC:14026 CTNNA2 gene CTNNA2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 Abnormal cerebral cortex morphology;HP:0002538 30013181 False 3 100;0;0 4.69 True ENSG00000066032 ENSG00000066032 HGNC:2510 DCHS1 gene DCHS1 Expert Review Green;Australian Genomics Health Alliance Brain Malformation Flagship;Victorian Clinical Genetics Services Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Van Maldergem syndrome 1, MIM# 601390 Abnormal cerebral cortex morphology;HP:0002538 24056717;29046692 False 3 100;0;0 4.69 True ENSG00000166341 ENSG00000166341 HGNC:13681 DCHS1 gene DCHS1 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Van Maldergem syndrome 1 (MIM#601390)" Abnormal cerebral cortex morphology;HP:0002538 27262615;22473091 False 3 100;0;0 4.69 True ENSG00000166341 ENSG00000166341 HGNC:13681 DCX gene DCX Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Lissencephaly, X-linked, MIM# 300067;Subcortical laminal heterotopia, X-linked 300067 Abnormal cerebral cortex morphology;HP:0002538 10915612;9489699;12552055 False 3 100;0;0 4.69 True ENSG00000077279 ENSG00000077279 HGNC:2714 DEPDC5 gene DEPDC5 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial focal, with variable foci 1 (MIM#604364) Abnormal cerebral cortex morphology;HP:0002538 31444548 False 3 100;0;0 4.69 True ENSG00000100150 ENSG00000100150 HGNC:18423 DEPDC5 gene DEPDC5 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092 Abnormal cerebral cortex morphology;HP:0002538 PMID: 36067010;32848577 False 3 100;0;0 4.69 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000100150 ENSG00000100150 HGNC:18423 DYNC1H1 gene DYNC1H1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders Unknown Abnormal cerebral cortex morphology;HP:0002538 False 3 0;0;0 4.69 False ENSG00000197102 ENSG00000197102 HGNC:2961 DYNC1H1 gene DYNC1H1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 13, MIM# 614563 Abnormal cerebral cortex morphology;HP:0002538 23603762;29671837;32570172;27331017 False 3 100;0;0 4.69 True ENSG00000197102 ENSG00000197102 HGNC:2961 EML1 gene EML1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Band heterotopia (MIM# 600348) Abnormal cerebral cortex morphology;HP:0002538 31710781 False 3 100;0;0 4.69 True ENSG00000066629 ENSG00000066629 HGNC:3330 EML1 gene EML1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Band heterotopia (MIM# 600348) Abnormal cerebral cortex morphology;HP:0002538 31710781 False 3 100;0;0 4.69 True ENSG00000066629 ENSG00000066629 HGNC:3330 FKRP gene FKRP Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM# 613153 Abnormal cerebral cortex morphology;HP:0002538 False 3 100;0;0 4.69 True ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, MIM# 253800 Abnormal cerebral cortex morphology;HP:0002538 False 3 100;0;0 4.69 True ENSG00000106692 ENSG00000106692 HGNC:3622 FLNA gene FLNA Expert Review Green;Australian Genomics Health Alliance Brain Malformation Flagship;Victorian Clinical Genetics Services Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Heterotopia, periventricular, 1 , MIM#300049 Abnormal cerebral cortex morphology;HP:0002538 9883725;15668422;15994863 False 3 100;0;0 4.69 True ENSG00000196924 ENSG00000196924 HGNC:3754 GPSM2 gene GPSM2 Expert Review Green;Expert list Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chudley-McCullough syndrome MIM#604213 Abnormal cerebral cortex morphology;HP:0002538 22578326 False 3 100;0;0 4.69 True ENSG00000121957 ENSG00000121957 HGNC:29501 GRIN1 gene GRIN1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254" Abnormal cerebral cortex morphology;HP:0002538 29365063 False 3 100;0;0 4.69 True ENSG00000176884 ENSG00000176884 HGNC:4584 GRIN2B gene GRIN2B Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted GRIN2B-related neurodevelopmental disorder;Mental retardation, autosomal dominant 6, MIM# 613970 Abnormal cerebral cortex morphology;HP:0002538 28377535 False 3 100;0;0 4.69 True ENSG00000273079 ENSG00000273079 HGNC:4586 HNRNPK gene HNRNPK Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Au-Kline syndrome MIM#616580 Abnormal cerebral cortex morphology;HP:0002538 False 3 100;0;0 4.69 True ENSG00000165119 ENSG00000165119 HGNC:5044 HSD17B4 gene HSD17B4 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal D-bifunctional protein deficiency - MIM#261515 Abnormal cerebral cortex morphology;HP:0002538 27790638;32904102 False 3 100;0;0 4.69 True ENSG00000133835 ENSG00000133835 HGNC:5213 ISPD gene ISPD Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Abnormal cerebral cortex morphology;HP:0002538 22522421;23217329 False 3 100;0;0 4.69 True ENSG00000214960 ENSG00000214960 HGNC:37276 KATNB1 gene KATNB1 Expert Review Green;Expert list Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Lissencephaly 6, with microcephaly, MIM# 616212" Abnormal cerebral cortex morphology;HP:0002538 25521378;25521379;26640080 False 3 100;0;0 4.69 True ENSG00000140854 ENSG00000140854 HGNC:6217 KIF1BP gene KIF1BP Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Goldberg-Shprintzen megacolon syndrome MIM#609460 Abnormal cerebral cortex morphology;HP:0002538 23427148;15883926 False 3 100;0;0 4.69 True ENSG00000198954 ENSG00000198954 HGNC:23419 KIF26A gene KIF26A Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156 Abnormal cerebral cortex morphology;HP:0002538 PMID: 36228617 False 3 100;0;0 4.69 True ENSG00000066735 ENSG00000066735 HGNC:20226 KIF2A gene KIF2A Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411 Abnormal cerebral cortex morphology;HP:0002538 23603762;27896282;27747449;29077851;31919497 False 3 100;0;0 4.69 True ENSG00000068796 ENSG00000068796 HGNC:6318 KIF5C gene KIF5C Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282 Abnormal cerebral cortex morphology;HP:0002538 23603762;23033978;32562872 False 3 100;0;0 4.69 True ENSG00000168280 ENSG00000168280 HGNC:6325 KIF5C gene KIF5C Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282 Abnormal cerebral cortex morphology;HP:0002538 23603762;23033978;32562872 False 3 100;0;0 4.69 True ENSG00000168280 ENSG00000168280 HGNC:6325 LAMA2 gene LAMA2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal LAMA2-related muscular dystrophy;Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 Abnormal cerebral cortex morphology;HP:0002538 20207543;18406646 False 3 100;0;0 4.69 True ENSG00000196569 ENSG00000196569 HGNC:6482 LAMA2 gene LAMA2 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 Abnormal cerebral cortex morphology;HP:0002538 32827036 False 3 100;0;0 4.69 True ENSG00000196569 ENSG00000196569 HGNC:6482 LAMB1 gene LAMB1 Expert Review Green;Expert Review Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Lissencephaly 5, MIM# 615191" Abnormal cerebral cortex morphology;HP:0002538 23472759;25925986 False 3 100;0;0 4.69 True ENSG00000091136 ENSG00000091136 HGNC:6486 LAMB1 gene LAMB1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lissencephaly 5, MIM# 615191 Abnormal cerebral cortex morphology;HP:0002538 23472759;25925986;29888467 False 3 100;0;0 4.69 True ENSG00000091136 ENSG00000091136 HGNC:6486 LAMC3 gene LAMC3 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical malformations, occipital, MIM#614115 Abnormal cerebral cortex morphology;HP:0002538 21572413;34354730 False 3 100;0;0 4.69 True ENSG00000050555 ENSG00000050555 HGNC:6494 LARGE1 gene LARGE1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormal cerebral cortex morphology;HP:0002538 False 3 100;0;0 4.69 True ENSG00000133424 ENSG00000133424 HGNC:6511 LARGE1 gene LARGE1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154 Abnormal cerebral cortex morphology;HP:0002538 False 3 100;0;0 4.69 True ENSG00000133424 ENSG00000133424 HGNC:6511 MACF1 gene MACF1 Expert Review Green;Expert list Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Lissencephaly 9 with complex brainstem malformation, MIM# 618325" Abnormal cerebral cortex morphology;HP:0002538 30471716 False 3 100;0;0 4.69 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000127603 ENSG00000127603 HGNC:13664 MAN2C1 gene MAN2C1 Expert Review Green;Research;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation 2, MIM# 619775 Abnormal cerebral cortex morphology;HP:0002538 35045343 False 3 100;0;0 4.69 True ENSG00000140400 ENSG00000140400 HGNC:6827 MAP1B gene MAP1B Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;seizures;PVNH;dysmorphic features;Periventricular nodular heterotopia 9, MIM# 618918 Abnormal cerebral cortex morphology;HP:0002538 31317654;30150678;30214071 False 3 100;0;0 4.69 True ENSG00000131711 ENSG00000131711 HGNC:6836 MAP1B gene MAP1B 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 Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;seizures;PVNH;dysmorphic features;Periventricular nodular heterotopia 9, MIM# 618918 Abnormal cerebral cortex morphology;HP:0002538 31317654;30150678;30214071 False 3 100;0;0 4.69 True ENSG00000131711 ENSG00000131711 HGNC:6836 MAPK8IP3 gene MAPK8IP3 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 Abnormal cerebral cortex morphology;HP:0002538 30612693 False 3 100;0;0 4.69 True ENSG00000138834 ENSG00000138834 HGNC:6884 MAST1 gene MAST1 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MIM# 618273 Abnormal cerebral cortex morphology;HP:0002538 32818970;30449657 False 3 100;0;0 4.69 True ENSG00000105613 ENSG00000105613 HGNC:19034 MTOR gene MTOR Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Smith-Kingsmore syndrome, MIM# 616638 Abnormal cerebral cortex morphology;HP:0002538 28892148 False 3 100;0;0 4.69 True ENSG00000198793 ENSG00000198793 HGNC:3942 NDE1 gene NDE1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microhydranencephaly 605013;Lissencephaly 4 (with microcephaly) 614019 Abnormal cerebral cortex morphology;HP:0002538 30637988 False 3 100;0;0 4.69 True ENSG00000072864 ENSG00000072864 HGNC:17619 NDE1 gene NDE1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders Unknown Abnormal cerebral cortex morphology;HP:0002538 False 3 0;0;0 4.69 False ENSG00000072864 ENSG00000072864 HGNC:17619 NEDD4L gene NEDD4L Expert Review Green;Australian Genomics Health Alliance Brain Malformation Flagship;Victorian Clinical Genetics Services Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periventricular nodular heterotopia 7, MIM# 617201 Abnormal cerebral cortex morphology;HP:0002538 34087865;27694961;32117442 False 3 100;0;0 4.69 True ENSG00000049759 ENSG00000049759 HGNC:7728 NEDD4L gene NEDD4L Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Periventricular nodular heterotopia 7, MIM# 617201;polymicrogyria;syndactyly" Abnormal cerebral cortex morphology;HP:0002538 27694961;28515470;30393983 False 3 100;0;0 4.69 True ENSG00000049759 ENSG00000049759 HGNC:7728 NPRL2 gene NPRL2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial focal, with variable foci 2- MIM#617116 Abnormal cerebral cortex morphology;HP:0002538 29281825;27173016;31625153;33461085 False 3 50;50;0 4.69 True ENSG00000114388 ENSG00000114388 HGNC:24969 NPRL3 gene NPRL3 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial focal, with variable foci 3 (MIM#617118) Abnormal cerebral cortex morphology;HP:0002538 27173016;26285051 False 3 100;0;0 4.69 True ENSG00000103148 ENSG00000103148 HGNC:14124 OCLN gene OCLN Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders Unknown Abnormal cerebral cortex morphology;HP:0002538 False 3 0;0;0 4.69 False ENSG00000197822 ENSG00000197822 HGNC:8104 OSGEP gene OSGEP Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 3, MIM#617729 Abnormal cerebral cortex morphology;HP:0002538 PMID: 30558655 False 3 100;0;0 4.69 True ENSG00000092094 ENSG00000092094 HGNC:18028 PAFAH1B1 gene PAFAH1B1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 1, MIM# 607432;Subcortical laminar heterotopia, MIM# 607432;MONDO:0011830 Abnormal cerebral cortex morphology;HP:0002538 11754098;18285425 False 3 100;0;0 4.69 True ENSG00000007168 ENSG00000007168 HGNC:8574 PEX1 gene PEX1 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Peroxisome biogenesis disorder 1A (Zellweger) (MIM#214100)" Abnormal cerebral cortex morphology;HP:0002538 21031596 False 3 100;0;0 4.69 True ENSG00000127980 ENSG00000127980 HGNC:8850 PEX6 gene PEX6 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862) Abnormal cerebral cortex morphology;HP:0002538 21031596;9877282;26700162 False 3 100;0;0 4.69 True ENSG00000124587 ENSG00000124587 HGNC:8859 PIDD1 gene PIDD1 Expert Review Green;Expert Review Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827 Abnormal cerebral cortex morphology;HP:0002538 28397838;29302074;33414379;34163010 False 3 100;0;0 4.69 True ENSG00000177595 ENSG00000177595 HGNC:16491 PIK3CA gene PIK3CA Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders Unknown Abnormal cerebral cortex morphology;HP:0002538 False 3 0;0;0 4.69 False ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R2 gene PIK3R2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders Unknown Abnormal cerebral cortex morphology;HP:0002538 False 3 0;0;0 4.69 False ENSG00000105647 ENSG00000105647 HGNC:8980 POMGNT1 gene POMGNT1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, MIM# 253280 Abnormal cerebral cortex morphology;HP:0002538 False 3 100;0;0 4.69 True ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830 Abnormal cerebral cortex morphology;HP:0002538 False 3 100;0;0 4.69 True ENSG00000144647 ENSG00000144647 HGNC:25902 POMT1 gene POMT1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670 Abnormal cerebral cortex morphology;HP:0002538 False 3 100;0;0 4.69 True ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150 Abnormal cerebral cortex morphology;HP:0002538 False 3 100;0;0 4.69 True ENSG00000009830 ENSG00000009830 HGNC:19743 PTEN gene PTEN Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cowden syndrome 1 158350;Lhermitte-Duclos syndrome 158350;Macrocephaly/autism syndrome 605309 Abnormal cerebral cortex morphology;HP:0002538 32162846 False 3 100;0;0 4.69 True ENSG00000171862 ENSG00000171862 HGNC:9588 PTEN gene PTEN Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrocephaly/autism syndrome, MIM# 605309 Abnormal cerebral cortex morphology;HP:0002538 32959437 False 3 100;0;0 4.69 True ENSG00000171862 ENSG00000171862 HGNC:9588 RAB18 gene RAB18 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 3, MIM# 614222 Abnormal cerebral cortex morphology;HP:0002538 21473985;23420520 False 3 100;0;0 4.69 True ENSG00000099246 ENSG00000099246 HGNC:14244 RAB3GAP1 gene RAB3GAP1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 1, MIM# 600118 Abnormal cerebral cortex morphology;HP:0002538 23420520 False 3 100;0;0 4.69 True ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 2 614225 Abnormal cerebral cortex morphology;HP:0002538 23420520;20967465 False 3 100;0;0 4.69 True ENSG00000118873 ENSG00000118873 HGNC:17168 RAC1 gene RAC1 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 48, MIM# 617751 Abnormal cerebral cortex morphology;HP:0002538 35139179 False 3 100;0;0 4.69 True ENSG00000136238 ENSG00000136238 HGNC:9801 RAC3 gene RAC3 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577 Abnormal cerebral cortex morphology;HP:0002538 35851598 False 3 100;0;0 4.69 True ENSG00000169750 ENSG00000169750 HGNC:9803 RELN gene RELN Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lissencephaly 2 (Norman-Roberts type), MIM# 257320 Abnormal cerebral cortex morphology;HP:0002538 10973257;29671837;31805691;35769015 False 3 100;0;0 4.69 True ENSG00000189056 ENSG00000189056 HGNC:9957 RTTN gene RTTN Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders Unknown Abnormal cerebral cortex morphology;HP:0002538 False 3 0;0;0 4.69 False ENSG00000176225 ENSG00000176225 HGNC:18654 SCN3A gene SCN3A Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polymicrogyria;epileptic encephalopathy Abnormal cerebral cortex morphology;HP:0002538 30146301;29740860;32515017 False 3 100;0;0 4.69 True ENSG00000153253 ENSG00000153253 HGNC:10590 SHMT2 gene SHMT2 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormal cerebral cortex morphology;HP:0002538 33015733 False 3 100;0;0 4.69 True ENSG00000182199 ENSG00000182199 HGNC:10852 SLC35A2 gene SLC35A2 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) Abnormal cerebral cortex morphology;HP:0002538 PMID: 33407896 False 3 100;0;0 4.69 True ENSG00000102100 ENSG00000102100 HGNC:11022 SNAP29 gene SNAP29 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528) Abnormal cerebral cortex morphology;HP:0002538 29051910;21073448;30793783 False 3 100;0;0 4.69 True ENSG00000099940 ENSG00000099940 HGNC:11133 SNAP29 gene SNAP29 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528) Abnormal cerebral cortex morphology;HP:0002538 29051910;21073448;30793783 False 3 100;0;0 4.69 True ENSG00000099940 ENSG00000099940 HGNC:11133 TCP1 gene TCP1 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021 Abnormal cerebral cortex morphology;HP:0002538 39480921 False 3 100;0;0 4.69 True ENSG00000120438 ENSG00000120438 HGNC:11655 TMEM5 gene TMEM5 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041 Abnormal cerebral cortex morphology;HP:0002538 23217329;23519211 False 3 100;0;0 4.69 True ENSG00000118600 ENSG00000118600 HGNC:13530 TMEM5 gene TMEM5 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041 Abnormal cerebral cortex morphology;HP:0002538 23217329;23519211 False 3 100;0;0 4.69 True ENSG00000118600 ENSG00000118600 HGNC:13530 TMTC3 gene TMTC3 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lissencephaly 8 (MIM#617255) Abnormal cerebral cortex morphology;HP:0002538 27773428;28973161 False 3 100;0;0 4.69 True ENSG00000139324 ENSG00000139324 HGNC:26899 TMX2 gene TMX2 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730 Abnormal cerebral cortex morphology;HP:0002538 31735293;31586943 False 3 50;50;0 4.69 True ENSG00000213593 ENSG00000213593 HGNC:30739 TP73 gene TP73 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466;brain malformation;lissencephaly Abnormal cerebral cortex morphology;HP:0002538 34077761 False 3 100;0;0 4.69 True ENSG00000078900 ENSG00000078900 HGNC:12003 TSC1 gene TSC1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-1, 191100;Autosomal dominant Focal cortical dysplasia, type II, somatic, 607341 Abnormal cerebral cortex morphology;HP:0002538 32917966 False 3 100;0;0 4.69 True ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-2, MIM# 613254 Abnormal cerebral cortex morphology;HP:0002538 False 3 100;0;0 4.69 True ENSG00000103197 ENSG00000103197 HGNC:12363 TUBA1A gene TUBA1A Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders Unknown Abnormal cerebral cortex morphology;HP:0002538 False 3 0;0;0 4.69 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBA1A gene TUBA1A Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Abnormal cerebral cortex morphology;HP:0002538 False 3 100;0;0 4.69 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBA1A gene TUBA1A Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 3, MIM#611603 Abnormal cerebral cortex morphology;HP:0002538 30517687;20466733 False 3 100;0;0 4.69 True Other ENSG00000167552 ENSG00000167552 HGNC:20766 TUBB gene TUBB Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders Unknown Abnormal cerebral cortex morphology;HP:0002538 False 3 0;0;0 4.69 False ENSG00000196230 ENSG00000196230 HGNC:20778 TUBB gene TUBB Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771 Abnormal cerebral cortex morphology;HP:0002538 23246003;32085672 False 3 100;0;0 4.69 True ENSG00000196230 ENSG00000196230 HGNC:20778 TUBB2A gene TUBB2A Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763 Abnormal cerebral cortex morphology;HP:0002538 32571897 False 3 100;0;0 4.69 True ENSG00000137267 ENSG00000137267 HGNC:12412 TUBB2B gene TUBB2B Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders Unknown Abnormal cerebral cortex morphology;HP:0002538 False 3 0;0;0 4.69 False ENSG00000137285 ENSG00000137285 HGNC:30829 TUBB2B gene TUBB2B Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031 Abnormal cerebral cortex morphology;HP:0002538 19465910;22333901;26732629;33082561 False 3 100;0;0 4.69 True ENSG00000137285 ENSG00000137285 HGNC:30829 TUBB3 gene TUBB3 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders Unknown Abnormal cerebral cortex morphology;HP:0002538 False 3 0;0;0 4.69 False ENSG00000258947 ENSG00000258947 HGNC:20772 TUBB3 gene TUBB3 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039 Abnormal cerebral cortex morphology;HP:0002538 20829227;25059107;33318778 False 3 100;0;0 4.69 True ENSG00000258947 ENSG00000258947 HGNC:20772 TUBG1 gene TUBG1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412 Abnormal cerebral cortex morphology;HP:0002538 23603762;31086189 False 3 100;0;0 4.69 True ENSG00000131462 ENSG00000131462 HGNC:12417 TUBGCP2 gene TUBGCP2 Expert Review Green;Literature Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lissencephaly;pachygyria;subcortical band heterotopia;microcephaly;intellectual disability Abnormal cerebral cortex morphology;HP:0002538 31630790 False 3 100;0;0 4.69 True ENSG00000130640 ENSG00000130640 HGNC:18599 VLDLR gene VLDLR Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (MIM#224050) Abnormal cerebral cortex morphology;HP:0002538 16080122;18364738;18326629;22700954;22973972 False 3 100;0;0 4.69 True ENSG00000147852 ENSG00000147852 HGNC:12698 WDR62 gene WDR62 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Malformations of cortical development_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317;MONDO:0011435 Abnormal cerebral cortex morphology;HP:0002538 20890279;20729831;20890278;21496009;21834044;22775483;32677750;31788460 False 3 100;0;0 4.69 True ENSG00000075702 ENSG00000075702 HGNC:24502