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 AKT3 gene AKT3 Expert Review Amber;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 22729224;25722288;28969385;34237354;36695285;37395289 False 2 100;0;0 2.41 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 ARAF gene ARAF Expert list;Expert Review Amber Mosaic skin disorders - deep sequencing X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) central conducting lymphatic anomaly 31263281 False 2 100;0;0 2.41 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000078061 ENSG00000078061 HGNC:646 ATP2A2 gene ATP2A2 Expert Review Amber Mosaic skin disorders - deep sequencing MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Segmental Darier disease OMIM:124200;Darier-White disease OMIM:124200;Acrokeratosis verruciformis, OMIM:101900 30085326;26154588;21720150;12890216;11121153 False 2 67;33;0 2.41 False ENSG00000174437 ENSG00000174437 HGNC:812 EGFR gene EGFR Expert list;Expert Review Amber Mosaic skin disorders - deep sequencing MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted nonepidermolytic keratinocytic epidermal naevus 31745974 False 2 0;100;0 2.41 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000146648 ENSG00000146648 HGNC:3236 EPHB4 gene EPHB4 Expert list;Expert Review Amber Mosaic skin disorders - deep sequencing MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Capillary malformation-arteriovenous malformation 2, OMIM:618196 30760892 False 2 100;0;0 2.41 False ENSG00000196411 ENSG00000196411 HGNC:3395 FGFR2 gene FGFR2 Expert Review Amber Mosaic skin disorders - deep sequencing MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Keratinocytic epidermal naevi (KENs);Naevoid acanthosis nigricans;RAVEN (round and velvety epidermal naevus) 9728990;27095246;30117157;30580445;31937562;33930231;37203864 False 2 100;0;0 2.41 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000066468 ENSG00000066468 HGNC:3689 GJA4 gene GJA4 Expert list;Expert Review Amber Mosaic skin disorders - deep sequencing MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cutaneous and hepatic vascular lesions (no OMIM phenotype) 33912852;35642047;35902510;36209871;37072338 False 2 100;0;0 2.41 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000187513 ENSG00000187513 HGNC:4278 GNB2 gene GNB2 Expert Review Amber;Literature Mosaic skin disorders - deep sequencing MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sturge-Weber syndrome, somatic, mosaic, OMIM:185300 34124757 False 2 0;50;50 2.41 False ENSG00000172354 ENSG00000172354 HGNC:4398 IKBKG gene IKBKG Expert Review Amber;Other Mosaic skin disorders - deep sequencing X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Ectodermal dysplasia and immunodeficiency 1, 300291;Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301;Incontinentia pigmenti, 308300 False 2 100;0;0 2.41 False ENSG00000073009 ENSG00000269335 HGNC:5961 KITLG gene KITLG Expert Review Amber;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Linear and whorled nevoid hypermelanosis (LWNH);Hyperpigmentation with or without hypopigmentation, OMIM:145250 28257793 False 2 100;0;0 2.41 False ENSG00000049130 ENSG00000049130 HGNC:6343 MVD gene MVD Expert Review Amber Mosaic skin disorders - deep sequencing MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Linear porokeratosis 30942823 False 2 50;50;0 2.41 False ENSG00000167508 ENSG00000167508 HGNC:7529 NEK9 gene NEK9 Expert list;Expert Review Amber Mosaic skin disorders - deep sequencing MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nevus comedonicus, somatic, OMIM:617025 27153399;34184242;31961058;33481271 False 2 100;0;0 2.41 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000119638 ENSG00000119638 HGNC:18591 PIK3R1 gene PIK3R1 Expert list;Expert Review Amber Mosaic skin disorders - deep sequencing MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vascular malformation and overgrowth 29174369;34040190;35964931 False 2 100;0;0 2.41 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000145675 ENSG00000145675 HGNC:8979 PMVK gene PMVK Expert Review Amber Mosaic skin disorders - deep sequencing MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Linear porokeratosis 30942823 False 2 0;100;0 2.41 False ENSG00000163344 ENSG00000163344 HGNC:9141 PTCH1 gene PTCH1 Expert list;Expert Review Amber Mosaic skin disorders - deep sequencing MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal cell nevus syndrome 1, OMIM:109400;Basal cell carcinoma, somatic, OMIM:605462;Gorlin syndrome 23746055;27658957;30520020;32298489;35235545;36002246 False 2 100;0;0 2.41 False ENSG00000185920 ENSG00000185920 HGNC:9585 TEK gene TEK Expert Review;Expert Review Amber Mosaic skin disorders - deep sequencing MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Venous malformations, multiple cutaneous and mucosal, OMIM:600195;Unifocal and multifocal sporadic venous malformations;Blue rubber bleb naevus 19079259;27519652;30677207;34850385;35460567;35740480;36924216 False 2 50;50;0 2.41 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000120156 ENSG00000120156 HGNC:11724 TP63 gene TP63 Expert list;Expert Review Amber Mosaic skin disorders - deep sequencing MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Split hand foot malformation with whorl-like pigmentary pattern 18792980 False 2 100;0;0 2.41 False ENSG00000073282 ENSG00000073282 HGNC:15979