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 AKT2 gene AKT2 Expert Review Red Cerebral malformation Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900;Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416 False 1 0;0;0 15.73 False ENSG00000105221 ENSG00000105221 HGNC:392 BAIAP2 gene BAIAP2 Other Cerebral malformation Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown developmental and epileptic encephalopathy, MONDO:0100620;classic lissencephaly, MONDO:0015146 30696821;38149472;41133935 False 1 0;0;100 15.73 False ENSG00000175866 ENSG00000175866 HGNC:947 DLGAP4 gene DLGAP4 Literature Cerebral malformation Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 35585091 False 1 0;0;100 15.73 False ENSG00000080845 ENSG00000080845 HGNC:24476 ENO1 gene ENO1 Expert Review Red;Literature Cerebral malformation Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polymicrogyria, MONDO:0000087 32488097 False 1 0;0;100 15.73 False ENSG00000074800 ENSG00000074800 HGNC:3350 EOMES gene EOMES Literature Cerebral malformation Neurology BIALLELIC, autosomal or pseudoautosomal microcephaly syndrome 17353897 False 1 0;0;100 15.73 False ENSG00000163508 ENSG00000163508 HGNC:3372 ERMARD gene ERMARD Expert Review Red;UKGTN Cerebral malformation Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periventricular nodular heterotopia 6 615544 24056535 False 1 0;0;100 15.73 True ENSG00000130023 ENSG00000130023 HGNC:21056 FOXH1 gene FOXH1 NHS GMS;Expert Review Red;Illumina TruGenome Clinical Sequencing Services Cerebral malformation Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 27363716 False 1 0;100;0 15.73 False ENSG00000160973 ENSG00000160973 HGNC:3814 GCM2 gene GCM2 NHS GMS;Expert Review Red;Other;UKGTN Cerebral malformation Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypoparathyroidism, familial isolated (AD) False 1 0;0;100 15.73 False ENSG00000124827 ENSG00000124827 HGNC:4198 GMPPB gene GMPPB Expert Review Red;Radboud University Medical Center, Nijmegen Cerebral malformation Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350 23768512 False 1 0;0;100 15.73 True ENSG00000173540 ENSG00000173540 HGNC:22932 HRAS gene HRAS Expert Review Red Cerebral malformation Neurology Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200;Hemimegalencephaly False 1 0;0;0 15.73 False ENSG00000174775 ENSG00000174775 HGNC:5173 KRAS gene KRAS Expert Review Red Cerebral malformation Neurology Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200;Hemimegalencephaly False 1 0;0;0 15.73 False ENSG00000133703 ENSG00000133703 HGNC:6407 MCF2 gene MCF2 Expert Review Red;Literature Cerebral malformation Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Perisylvian polymicrogyria;bilateral perisylvian polymicrogyria, MONDO:0020340 31846234 False 1 0;0;100 15.73 False ENSG00000101977 ENSG00000101977 HGNC:6940 MTOR gene MTOR Expert Review Red Cerebral malformation Neurology Segmental Overgrowth Syndrome;HME;Hemimegalencephaly False 1 0;0;0 15.73 False ENSG00000198793 ENSG00000198793 HGNC:3942 NODAL gene NODAL NHS GMS;Expert Review Red;Illumina TruGenome Clinical Sequencing Services Cerebral malformation Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 27363716 False 1 0;100;0 15.73 False ENSG00000156574 ENSG00000156574 HGNC:7865 NRAS gene NRAS Expert Review Red Cerebral malformation Neurology Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200;Hemimegalencephaly False 1 0;0;0 15.73 False ENSG00000213281 ENSG00000213281 HGNC:7989 PEX11A gene PEX11A Literature Cerebral malformation Neurology Unknown Zellweger syndrome;peroxisome proliferation;mild peroxisomal biogenesis defect 25177298;10716247;11839773;25608554 False 1 0;0;100 15.73 False ENSG00000166821 ENSG00000166821 HGNC:8852 PEX7 gene PEX7 Expert Review Red;NHS GMS;Literature Cerebral malformation Neurology BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders);Peroxisome biogenesis disorder 9B, 614879;Rhizomelic chondrodysplasia punctata, type 1, 215100 27604308 False 1 33;0;67 15.73 False ENSG00000112357 ENSG00000112357 HGNC:8860 POMK gene POMK Expert Review Red;Literature Cerebral malformation Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249 24925318 False 1 0;100;0 15.73 True ENSG00000185900 ENSG00000185900 HGNC:26267 SMAD2 gene SMAD2 NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen Cerebral malformation Neurology Unknown Unknown (Roessler (2008) Am J Hum Genet 83,18) 18538293 False 1 0;0;100 15.73 False ENSG00000175387 ENSG00000175387 HGNC:6768 TBC1D7 gene TBC1D7 Expert Review Red Cerebral malformation Neurology BIALLELIC, autosomal or pseudoautosomal Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000 False 1 100;0;0 15.73 False ENSG00000145979 ENSG00000145979 HGNC:21066 TSC2 gene TSC2 Expert Review Red;Literature Cerebral malformation Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Focal cortical dysplasia, type II, somatic 607341 28215400;19175396 False 1 0;0;0 15.73 False Other - please provide details in the comments ENSG00000103197 ENSG00000103197 HGNC:12363