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 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