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 ADGRG1 gene ADGRG1 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, bilateral frontoparietal, MIM#606854 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 16240336 False 3 100;0;0 0.195 True ENSG00000205336 ENSG00000205336 HGNC:4512 AKT3 gene AKT3 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937) Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 28969385 False 3 100;0;0 0.195 True ENSG00000117020 ENSG00000117020 HGNC:393 ARX gene ARX Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders Unknown Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 False 3 0;0;0 0.195 False ENSG00000004848 ENSG00000004848 HGNC:18060 ATP1A2 gene ATP1A2 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly 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" Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 31608932;33880529 False 3 100;0;0 0.195 True ENSG00000018625 ENSG00000018625 HGNC:800 ATP1A3 gene ATP1A3 Expert Review Green;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polymicrogyria;epilepsy;developmental delay Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 33762331;33880529 False 3 100;0;0 0.195 True ENSG00000105409 ENSG00000105409 HGNC:801 BICD2 gene BICD2 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant, 2B. MIM: 618291 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 28635954;32057122 False 3 100;0;0 0.195 True ENSG00000185963 ENSG00000185963 HGNC:17208 CCND2 gene CCND2 Expert list;Expert Review Green Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 24705253 False 3 100;0;0 0.195 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 COL18A1 gene COL18A1 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Knobloch syndrome, type 1 MIM# 267750 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 25456301;19160445;17546652 False 3 100;0;0 0.195 True ENSG00000182871 ENSG00000182871 HGNC:2195 COL3A1 gene COL3A1 Expert Review Green;Literature Polymicrogyria and Schizencephaly 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 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 28742248;19455184;25205403 False 3 100;0;0 0.195 True ENSG00000168542 ENSG00000168542 HGNC:2201 COL4A1 gene COL4A1 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly 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 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 23065703;31719132 False 3 100;0;0 0.195 True ENSG00000187498 ENSG00000187498 HGNC:2202 CSMD1 gene CSMD1 Expert Review Green;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 PMID 38816421 False 3 100;0;0 0.195 True ENSG00000183117 ENSG00000183117 HGNC:14026 DEPDC5 gene DEPDC5 Expert Review Green;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 PMID: 36067010;32848577 False 3 100;0;0 0.195 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 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders Unknown Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 False 3 0;0;0 0.195 False ENSG00000197102 ENSG00000197102 HGNC:2961 EML1 gene EML1 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Band heterotopia (MIM# 600348) Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 31710781 False 3 100;0;0 0.195 True ENSG00000066629 ENSG00000066629 HGNC:3330 GPSM2 gene GPSM2 Expert list;Expert Review Green Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chudley-McCullough syndrome MIM#604213 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 22578326 False 3 100;0;0 0.195 True ENSG00000121957 ENSG00000121957 HGNC:29501 GRIN1 gene GRIN1 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254" Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 29365063 False 3 100;0;0 0.195 True ENSG00000176884 ENSG00000176884 HGNC:4584 GRIN2B gene GRIN2B Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted GRIN2B-related neurodevelopmental disorder;Mental retardation, autosomal dominant 6, MIM# 613970 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 28377535 False 3 100;0;0 0.195 True ENSG00000273079 ENSG00000273079 HGNC:4586 HSD17B4 gene HSD17B4 Expert Review Green;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal D-bifunctional protein deficiency - MIM#261515 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 27790638;32904102 False 3 100;0;0 0.195 True ENSG00000133835 ENSG00000133835 HGNC:5213 KIF1BP gene KIF1BP Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Goldberg-Shprintzen megacolon syndrome MIM#609460 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 23427148;15883926 False 3 100;0;0 0.195 True ENSG00000198954 ENSG00000198954 HGNC:23419 KIF26A gene KIF26A Expert Review Green;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 PMID: 36228617 False 3 100;0;0 0.195 True ENSG00000066735 ENSG00000066735 HGNC:20226 KIF5C gene KIF5C Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 23603762;23033978;32562872 False 3 100;0;0 0.195 True ENSG00000168280 ENSG00000168280 HGNC:6325 LAMC3 gene LAMC3 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical malformations, occipital, MIM#614115 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 21572413;34354730 False 3 100;0;0 0.195 True ENSG00000050555 ENSG00000050555 HGNC:6494 MAN2C1 gene MAN2C1 Expert Review Green;Literature;Research Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation 2, MIM# 619775 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 35045343 False 3 100;0;0 0.195 True ENSG00000140400 ENSG00000140400 HGNC:6827 MAP1B gene MAP1B Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;seizures;PVNH;dysmorphic features;Periventricular nodular heterotopia 9, MIM# 618918 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 31317654;30150678;30214071 False 3 100;0;0 0.195 True ENSG00000131711 ENSG00000131711 HGNC:6836 MAPK8IP3 gene MAPK8IP3 Expert Review Green;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 30612693 False 3 100;0;0 0.195 True ENSG00000138834 ENSG00000138834 HGNC:6884 MAST1 gene MAST1 Expert Review Green;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MIM# 618273 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 32818970;30449657 False 3 100;0;0 0.195 True ENSG00000105613 ENSG00000105613 HGNC:19034 NDE1 gene NDE1 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders Unknown Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 False 3 0;0;0 0.195 False ENSG00000072864 ENSG00000072864 HGNC:17619 NEDD4L gene NEDD4L Expert Review Green;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Periventricular nodular heterotopia 7, MIM# 617201;polymicrogyria;syndactyly" Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 27694961;28515470;30393983 False 3 100;0;0 0.195 True ENSG00000049759 ENSG00000049759 HGNC:7728 OCLN gene OCLN Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders Unknown Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 False 3 0;0;0 0.195 False ENSG00000197822 ENSG00000197822 HGNC:8104 PEX1 gene PEX1 Expert Review Green;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Peroxisome biogenesis disorder 1A (Zellweger) (MIM#214100)" Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 21031596 False 3 100;0;0 0.195 True ENSG00000127980 ENSG00000127980 HGNC:8850 PEX6 gene PEX6 Expert Review Green;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862) Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 21031596;9877282;26700162 False 3 100;0;0 0.195 True ENSG00000124587 ENSG00000124587 HGNC:8859 PIK3CA gene PIK3CA Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders Unknown Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 False 3 0;0;0 0.195 False ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R2 gene PIK3R2 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders Unknown Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 False 3 0;0;0 0.195 False ENSG00000105647 ENSG00000105647 HGNC:8980 PTEN gene PTEN Expert Review Green;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrocephaly/autism syndrome, MIM# 605309 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 32959437 False 3 100;0;0 0.195 True ENSG00000171862 ENSG00000171862 HGNC:9588 RAB18 gene RAB18 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 3, MIM# 614222 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 21473985;23420520 False 3 100;0;0 0.195 True ENSG00000099246 ENSG00000099246 HGNC:14244 RAB3GAP1 gene RAB3GAP1 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 1, MIM# 600118 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 23420520 False 3 100;0;0 0.195 True ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 2 614225 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 23420520;20967465 False 3 100;0;0 0.195 True ENSG00000118873 ENSG00000118873 HGNC:17168 RAC1 gene RAC1 Expert Review Green;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 48, MIM# 617751 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 35139179 False 3 100;0;0 0.195 True ENSG00000136238 ENSG00000136238 HGNC:9801 RAC3 gene RAC3 Expert Review Green;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 35851598 False 3 100;0;0 0.195 True ENSG00000169750 ENSG00000169750 HGNC:9803 RTTN gene RTTN Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders Unknown Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 False 3 0;0;0 0.195 False ENSG00000176225 ENSG00000176225 HGNC:18654 SCN3A gene SCN3A Expert Review Green;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polymicrogyria;epileptic encephalopathy Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 30146301;29740860;32515017 False 3 100;0;0 0.195 True ENSG00000153253 ENSG00000153253 HGNC:10590 SHMT2 gene SHMT2 Expert Review Green;Literature Polymicrogyria and Schizencephaly 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 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 33015733 False 3 100;0;0 0.195 True ENSG00000182199 ENSG00000182199 HGNC:10852 SNAP29 gene SNAP29 Expert Review Green;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528) Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 29051910;21073448;30793783 False 3 100;0;0 0.195 True ENSG00000099940 ENSG00000099940 HGNC:11133 TCP1 gene TCP1 Expert Review Green;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 39480921 False 3 100;0;0 0.195 True ENSG00000120438 ENSG00000120438 HGNC:11655 TMX2 gene TMX2 Expert Review Green;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 31735293;31586943 False 3 50;50;0 0.195 True ENSG00000213593 ENSG00000213593 HGNC:30739 TUBA1A gene TUBA1A Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders Unknown Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 False 3 0;0;0 0.195 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBB gene TUBB Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders Unknown Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 False 3 0;0;0 0.195 False ENSG00000196230 ENSG00000196230 HGNC:20778 TUBB2B gene TUBB2B Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders Unknown Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 False 3 0;0;0 0.195 False ENSG00000137285 ENSG00000137285 HGNC:30829 TUBB3 gene TUBB3 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders Unknown Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 False 3 0;0;0 0.195 False ENSG00000258947 ENSG00000258947 HGNC:20772 WDR62 gene WDR62 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317;MONDO:0011435 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 20890279;20729831;20890278;21496009;21834044;22775483;32677750;31788460 False 3 100;0;0 0.195 True ENSG00000075702 ENSG00000075702 HGNC:24502 AHI1 gene AHI1 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Amber;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3, MIM# 608629 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 15467982 False 2 0;100;0 0.195 True ENSG00000135541 ENSG00000135541 HGNC:21575 ASTN1 gene ASTN1 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Amber;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polymicrogyria;hypoplastic corpus callosum Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 29706646 False 2 0;100;0 0.195 True ENSG00000152092 ENSG00000152092 HGNC:773 COL4A2 gene COL4A2 Expert Review Amber;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain small vessel disease 2, MIM#614483 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 30315939 False 2 0;100;0 0.195 True ENSG00000134871 ENSG00000134871 HGNC:2203 EMX2 gene EMX2 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Amber;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schizencephaly MIM# 269160 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 8528262;9359037;9153481;18409201 False 2 0;100;0 0.195 True ENSG00000170370 ENSG00000170370 HGNC:3341 FIG4 gene FIG4 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Amber;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polymicrogyria with epilepsy MIM# 612691 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 18758830;24598713 False 2 0;100;0 0.195 True ENSG00000112367 ENSG00000112367 HGNC:16873 L1CAM gene L1CAM Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Amber;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females L1CAM-related disease Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 9926316;27066571 False 2 0;100;0 0.195 True ENSG00000198910 ENSG00000198910 HGNC:6470 MED25 gene MED25 Expert Review Amber;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 32324310;32816121 False 2 0;100;0 0.195 True ENSG00000104973 ENSG00000104973 HGNC:28845 MFN2 gene MFN2 Expert Review Amber;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970, MFN2-related Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 PMID: 37804319 False 2 0;100;0 0.195 True ENSG00000116688 ENSG00000116688 HGNC:16877 NHEJ1 gene NHEJ1 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Amber;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders Unknown Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (MIM# 611291) Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 17191205 False 2 0;100;0 0.195 True ENSG00000187736 ENSG00000187736 HGNC:25737 NSDHL gene NSDHL Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Amber;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females CK syndrome 300831 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 19377476;19842190;21129721 False 2 0;100;0 0.195 True ENSG00000147383 ENSG00000147383 HGNC:13398 PAX6 gene PAX6 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Amber;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?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 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 12731001 False 2 0;100;0 0.195 True ENSG00000007372 ENSG00000007372 HGNC:8620 PEX10 gene PEX10 Expert Review Amber;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870)" Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 21031596 False 2 0;100;0 0.195 True ENSG00000157911 ENSG00000157911 HGNC:8851 PEX12 gene PEX12 Expert Review Amber;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859)" Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 21031596 False 2 0;100;0 0.195 True ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Amber;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883)" Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 21031596;19449432 False 2 0;100;0 0.195 True ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Expert Review Amber;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 21031596;18285423;15146459;30224891 False 2 0;100;0 0.195 True ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Expert Review Amber;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 21031596 False 2 0;100;0 0.195 True ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Expert Review Amber;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 21031596 False 2 0;100;0 0.195 True ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert Review Amber;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 21031596 False 2 0;100;0 0.195 True ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Amber;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 21031596 False 2 0;100;0 0.195 True ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert Review Amber;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Peroxisome biogenesis disorder 10A (Zellweger) 614882" Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 21031596 False 2 0;100;0 0.195 True ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Amber;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110) Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 21031596 False 2 0;100;0 0.195 True ENSG00000139197 ENSG00000139197 HGNC:9719 PI4KA gene PI4KA Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Amber;Victorian Clinical Genetics Services Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 25855803;34415322 False 2 0;100;0 0.195 True ENSG00000241973 ENSG00000241973 HGNC:8983 SMO gene SMO Expert Review Amber;Literature Polymicrogyria and Schizencephaly Neurology and neurodevelopmental disorders Unknown Curry-Jones syndrome, somatic mosaic MIM#601707 Polymicrogyria;HP:0002126;Schizencephaly;HP:0010636 27236920;24859340 False 2 0;100;0 0.195 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000128602 ENSG00000128602 HGNC:11119