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 ASTN1 gene ASTN1 Expert Review Amber;Literature Malformations of cortical development Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41544630 False 2 100;0;0 7.50 False ENSG00000152092 ENSG00000152092 HGNC:773 ATG12 gene ATG12 Expert Review Amber;Literature Malformations of cortical development Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;Hypoplasia of the corpus callosum, HP:0002079;Cerebellar hypoplasia, HP:0001321 41895291 False 2 100;0;0 7.50 False ENSG00000145782 ENSG00000145782 HGNC:588 CCT3 gene CCT3 Expert Review Amber;Literature Malformations of cortical development Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034;neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MONDO:0976125 39480921 False 2 100;0;0 7.50 False ENSG00000163468 ENSG00000163468 HGNC:1616 CCT8 gene CCT8 Expert Review Amber;Literature Malformations of cortical development Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CCT8-related neurodevelopmental disorder with brain abnormalities 39480921 False 2 0;100;0 7.50 False ENSG00000156261 ENSG00000156261 HGNC:1623 CEP76 gene CEP76 Expert Review Amber;Literature Malformations of cortical development Neurology BIALLELIC, autosomal or pseudoautosomal ciliopathy, MONDO:0005308;Joubert syndrome, MONDO:0018772;Bardet-Biedl syndrome, MONDO:0015229 41105778 False 2 100;0;0 7.50 False ENSG00000101624 ENSG00000101624 HGNC:25727 EMX2 gene EMX2 Expert Review Amber;NHS GMS;Other Malformations of cortical development Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Schizencephaly, OMIM:269160 8528262;9359037;18409201;17506092 False 2 25;75;0 7.50 False ENSG00000170370 ENSG00000170370 HGNC:3341 FAT4 gene FAT4 Expert list;Expert Review Amber Malformations of cortical development Neurology BIALLELIC, autosomal or pseudoautosomal Van Maldergem syndrome 2, OMIM:615546 22473091;24056717 False 2 0;100;0 7.50 False ENSG00000196159 ENSG00000196159 HGNC:23109 FIG4 gene FIG4 Expert list;Expert Review Amber Malformations of cortical development Neurology BIALLELIC, autosomal or pseudoautosomal ?Polymicrogyria, bilateral temporooccipital OMIM:612691;bilateral parasagittal parieto-occipital polymicrogyria MONDO:0012986 18758830;24598713 False 2 0;100;0 7.50 False ENSG00000112367 ENSG00000112367 HGNC:16873 FSD1L gene FSD1L Expert Review Amber;Literature Malformations of cortical development Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41720098;41720099 False 2 100;0;0 7.50 False ENSG00000106701 ENSG00000106701 HGNC:13753 JKAMP gene JKAMP Expert Review Amber;Literature Malformations of cortical development Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41643666 False 2 100;0;0 7.50 False ENSG00000050130 ENSG00000050130 HGNC:20184 KIF26A gene KIF26A Expert Review Amber;Other Malformations of cortical development Neurology BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 11, OMIM:620156;cortical dysplasia, complex, with other brain malformations 11 MONDO:0859332 36228617;36564622;39305096 False 2 100;0;0 7.50 False ENSG00000066735 ENSG00000066735 HGNC:20226 MYCBP2 gene MYCBP2 Expert Review Amber;Literature Malformations of cortical development Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 33875846;36200388;41200582;41543631 False 2 100;0;0 7.50 False ENSG00000005810 ENSG00000005810 HGNC:23386 PPP2R1A gene PPP2R1A Expert Review Amber;Literature Malformations of cortical development Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Houge-Janssens syndrome 2, OMIM:616362;Houge-Janssens syndrome 2, MONDO:0014605 33106617 False 2 100;0;0 7.50 False ENSG00000105568 ENSG00000105568 HGNC:9302 RDH11 gene RDH11 Expert Review Amber;Literature Malformations of cortical development Neurology BIALLELIC, autosomal or pseudoautosomal ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108;Neurodevelopmental delay, HP:0012758;Juvenile cataract, HP:0001118 24916380;34988992;41459630;41904678 False 2 100;0;0 7.50 False ENSG00000072042 ENSG00000072042 HGNC:17964 TCP1 gene TCP1 Expert Review Amber;Literature Malformations of cortical development Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021;intellectual developmental disorder with polymicrogyria and seizures, MONDO:0976124 39480921 False 2 100;0;0 7.50 False ENSG00000120438 ENSG00000120438 HGNC:11655 TSC1 gene TSC1 Expert Review Amber;Literature Malformations of cortical development Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Focal cortical dysplasia, type II, somatic 607341 28215400; 19175396; 16114042; 12112044 False 2 0;0;0 7.50 False Other - please provide details in the comments ENSG00000165699 ENSG00000165699 HGNC:12362 TUBA8 gene TUBA8 Emory Genetics Laboratory;Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN Malformations of cortical development Neurology BIALLELIC, autosomal or pseudoautosomal Polymicrogyria with optic nerve hypoplasia 613180 19896110 False 2 100;0;0 7.50 True ENSG00000183785 ENSG00000183785 HGNC:12410 VPS50 gene VPS50 Expert Review Amber;Literature Malformations of cortical development Neurology BIALLELIC, autosomal or pseudoautosomal Neonatal cholestatic liver disease;Failure to thrive;Profound global developmental delay;Postnatal microcephaly;Seizures;Abnormality of the corpus callosum 34037727 False 2 0;100;0 7.50 False ENSG00000004766 ENSG00000004766 HGNC:25956 WNK3 gene WNK3 Expert Review Amber;Literature Malformations of cortical development Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Prieto syndrome, OMIM:309610;Intellectual disability, MONDO:0001071 35678782 False 2 0;0;0 7.50 False ENSG00000196632 ENSG00000196632 HGNC:14543 ZNF865 gene ZNF865 Expert Review Amber;Literature Malformations of cortical development Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 40936200 False 2 100;0;0 7.50 False ENSG00000261221 ENSG00000261221 HGNC:38705