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 AKT1 gene AKT1 Expert list;Expert Review Green;NHS GMS Mosaic brain disorders - deep sequencing Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Proteus syndrome, somatic, OMIM:176920;Cowden syndrome 6, OMIM:615109 33897381;30901081;25722288 False 3 100;0;0 0.149 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000142208 ENSG00000142208 HGNC:391 AKT3 gene AKT3 Expert list;Expert Review Green;NHS GMS Mosaic brain disorders - deep sequencing Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 33897381;30901081;25722288 False 3 100;0;0 0.149 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000117020 ENSG00000117020 HGNC:393 BRAF gene BRAF Expert list;Expert Review Green;NHS GMS Mosaic brain disorders - deep sequencing Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Focal cortical dysplasia 36635388;36864519;36226386 False 3 100;0;0 0.149 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157764 ENSG00000157764 HGNC:1097 DCX gene DCX Expert list;Expert Review Green;NHS GMS Mosaic brain disorders - deep sequencing Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Lissencephaly, X-linked, OMIM:300067 (males);Subcortical laminal heterotopia, X-linked, OMIM:300067 (females) 10915612;25140959;10441340 False 3 100;0;0 0.149 False ENSG00000077279 ENSG00000077279 HGNC:2714 DEPDC5 gene DEPDC5 Expert list;Expert Review Green;NHS GMS Mosaic brain disorders - deep sequencing Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, familial focal, with variable foci 1, OMIM:604364;Focal cortical dysplasia 29708508;31444548;30093711 False 3 100;0;0 0.149 False ENSG00000100150 ENSG00000100150 HGNC:18423 FLNA gene FLNA Expert list;Expert Review Green;NHS GMS Mosaic brain disorders - deep sequencing Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Heterotopia, periventricular OMIM:300049 26471271;25140959 False 3 100;0;0 0.149 False ENSG00000196924 ENSG00000196924 HGNC:3754 MTOR gene MTOR Expert list;Expert Review Green;NHS GMS Mosaic brain disorders - deep sequencing Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Focal cortical dysplasia, type II, somatic, OMIM:607341;Smith-Kingsmore syndrome, OMIM:616638 33897381;30901081 False 3 100;0;0 0.149 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000198793 ENSG00000198793 HGNC:3942 NPRL3 gene NPRL3 Expert list;Expert Review Green;NHS GMS Mosaic brain disorders - deep sequencing Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial focal, with variable foci 3, OMIM:617118;Focal cortical dysplasia 26505888;31625153;30093711;35097204;31358956;36635388 False 3 67;33;0 0.149 False ENSG00000103148 ENSG00000103148 HGNC:14124 PAFAH1B1 gene PAFAH1B1 Expert list;Expert Review Green;NHS GMS Mosaic brain disorders - deep sequencing Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 1, OMIM:607432;Subcortical laminar heterotopia, OMIM:607432 25140959;20301752 False 3 100;0;0 0.149 False ENSG00000007168 ENSG00000007168 HGNC:8574 PIK3CA gene PIK3CA Expert list;Expert Review Green;NHS GMS Mosaic brain disorders - deep sequencing Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501;Macrodactyly, somatic, OMIM:155500;Cerebral cavernous malformations 4, somatic, OMIM:619538;CLOVE syndrome, somatic, OMIM:612918 25722288;33897381;30901081 False 3 100;0;0 0.149 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R2 gene PIK3R2 Expert list;Expert Review Green;NHS GMS Mosaic brain disorders - deep sequencing Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387 23745724;26520804;26860062;31441589 False 3 100;0;0 0.149 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000105647 ENSG00000105647 HGNC:8980 PTEN gene PTEN Expert list;Expert Review Green;NHS GMS Mosaic brain disorders - deep sequencing Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cowden syndrome 1, OMIM:158350;Lhermitte-Duclos disease, OMIM:158350;Macrocephaly/autism syndrome, OMIM:605309 25722288;34048549;27890237;17013611 False 3 100;0;0 0.149 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000171862 ENSG00000171862 HGNC:9588 PTPN11 gene PTPN11 Expert list;Expert Review Green;NHS GMS Mosaic brain disorders - deep sequencing Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Focal cortical dysplasia;Mesial temporal sclerosis 29257282;35687047;36864519;36907520;37126322 False 3 100;0;0 0.149 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000179295 ENSG00000179295 HGNC:9644 RHEB gene RHEB Expert list;Expert Review Green;NHS GMS Mosaic brain disorders - deep sequencing Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy and cortical dysplasia 29051493;30414531;33434304;37015817 False 3 50;50;0 0.149 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000106615 ENSG00000106615 HGNC:10011 SLC35A2 gene SLC35A2 Expert list;Expert Review Green;NHS GMS Mosaic brain disorders - deep sequencing Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Congenital disorder of glycosylation, type IIm, OMIM:300896;Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) 33407896 False 3 100;0;0 0.149 False ENSG00000102100 ENSG00000102100 HGNC:11022 TSC1 gene TSC1 Expert list;Expert Review Green;NHS GMS Mosaic brain disorders - deep sequencing Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis-1, OMIM:191100;Focal cortical dysplasia, type II, somatic, OMIM:607341 26540169 False 3 100;0;0 0.149 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert list;Expert Review Green;NHS GMS Mosaic brain disorders - deep sequencing Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis-2, OMIM:613254;Focal cortical dysplasia, type II, somatic, OMIM:607341 26540169 False 3 100;0;0 0.149 False ENSG00000103197 ENSG00000103197 HGNC:12363 TUBB2B gene TUBB2B Expert list;Expert Review Green;NHS GMS Mosaic brain disorders - deep sequencing Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031 25140959;26130693;32281916;33604570 False 3 100;0;0 0.149 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000137285 ENSG00000137285 HGNC:30829 CCND2 gene CCND2 Expert list;Expert Review Amber;NHS GMS Mosaic brain disorders - deep sequencing Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938 24705253 False 2 33;33;33 0.149 False 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 NPRL2 gene NPRL2 Expert list;Expert Review Amber;NHS GMS Mosaic brain disorders - deep sequencing Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial focal, with variable foci 2, OMIM:617116;Focal cortical dysplasia 26505888;31625153;30093711 False 2 50;50;0 0.149 False ENSG00000114388 ENSG00000114388 HGNC:24969 RPS6 gene RPS6 Expert list;Expert Review Red;NHS GMS Mosaic brain disorders - deep sequencing Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hemimegalencephaly, severe intellectual disability, intractable seizures and hypochromic skin patches 31411685 False 1 0;0;100 0.149 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000137154 ENSG00000137154 HGNC:10429 TBC1D7 gene TBC1D7 Expert list;Expert Review Red;NHS GMS Mosaic brain disorders - deep sequencing Neurology BIALLELIC, autosomal or pseudoautosomal Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000 23687350;24515783 False 1 0;0;100 0.149 False ENSG00000145979 ENSG00000145979 HGNC:21066