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 ACTB gene ACTB Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 28347698 False 3 100;0;0 3.27 False ENSG00000075624 ENSG00000075624 HGNC:132 AKT1 gene AKT1 Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Proteus syndrome 21793738;33030203 False 3 100;0;0 3.27 False ENSG00000142208 ENSG00000142208 HGNC:391 AKT3 gene AKT3 Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 22729224;25722288;28969385;34237354;36695285;37395289 False 3 100;0;0 3.27 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 ATP2A2 gene ATP2A2 Expert Review Green;NHS GMS Mosaic skin disorders - deep sequencing Dermatology 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 3 75;25;0 3.27 False ENSG00000174437 ENSG00000174437 HGNC:812 BRAF gene BRAF Expert list;Expert Review Green Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Melanocytic naevus syndrome, OMIM:137550;Vascular malformations;Noonan syndrome 7 (MIM 613706);LEOPARD syndrome 3 , OMIM:613707;Cardio-facio-cutaneous syndrome 1, OMIM:115150 31111470;31891627;29461977 False 3 100;0;0 3.27 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 FGFR1 gene FGFR1 Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epidermal naevi 26942290 False 3 100;0;0 3.27 False ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert Review Green;NHS GMS Mosaic skin disorders - deep sequencing Dermatology 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 3 100;0;0 3.27 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 FGFR3 gene FGFR3 Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syringocystadenoma papilliferum;Epidermal naevi 22499344;16841094 False 3 100;0;0 3.27 False ENSG00000068078 ENSG00000068078 HGNC:3690 GJA4 gene GJA4 Expert list;Expert Review Green;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cutaneous and hepatic vascular lesions (no OMIM phenotype) 33912852;35642047;35902510;36209871;37072338 False 3 100;0;0 3.27 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 GNA11 gene GNA11 Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phakomatosis pigmentovascularis;Extensive dermal melanocytosis 26778290 False 3 100;0;0 3.27 False ENSG00000088256 ENSG00000088256 HGNC:4379 GNA14 gene GNA14 Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tufted angioma;Kaposiform endothelioma 27476652 False 3 100;0;0 3.27 False ENSG00000156049 ENSG00000156049 HGNC:4382 GNAQ gene GNAQ Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phakomatosis pigmentovascularis;Extensive dermal melanocytosis;Sturge-Weber syndrome, somatic, mosaic, OMIM:185300 26778290;34124757 False 3 100;0;0 3.27 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000156052 ENSG00000156052 HGNC:4390 GNAS gene GNAS Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown McCune-Albright syndrome, somatic, mosaic, OMIM:174800;panostotic fibrous dysplasia, MONDO:0043168 12970318 False 3 100;0;0 3.27 False ENSG00000087460 ENSG00000087460 HGNC:4392 HRAS gene HRAS Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Woolly hair;Phakomatosis pigmentokeratotica;Costello syndrome;Schimmelpenning syndrome;Epidermal naevi 22499344;22683711;24006476 False 3 100;0;0 3.27 False ENSG00000174775 ENSG00000174775 HGNC:5173 IDH1 gene IDH1 Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ollier disease;Maffucci syndrome 22057234 False 3 100;0;0 3.27 False ENSG00000138413 ENSG00000138413 HGNC:5382 IDH2 gene IDH2 Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ollier disease;Maffucci syndrome 22057234 False 3 100;0;0 3.27 False ENSG00000182054 ENSG00000182054 HGNC:5383 IKBKG gene IKBKG Expert Review Green;NHS GMS;Other Mosaic skin disorders - deep sequencing Dermatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Incontinentia pigmenti, OMIM:308300 32908217;29077987 False 3 100;0;0 3.27 False ENSG00000073009 ENSG00000269335 HGNC:5961 KRAS gene KRAS Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schimmelpenning syndrome;Epidermal naevi 22499344;22683711 False 3 100;0;0 3.27 False ENSG00000133703 ENSG00000133703 HGNC:6407 KRT1 gene KRT1 Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epidermolytic hyperkeratosis;Palmoplantar keratoderma;Ichthyosis histrix 28532675;17255957 False 3 100;0;0 3.27 False ENSG00000167768 ENSG00000167768 HGNC:6412 KRT10 gene KRT10 Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epidermolytic hyperkeratosis;Palmoplantar keratoderma;Ichythosis with confetti;Pachyonychia congenita 29135017;25495838 False 3 100;0;0 3.27 False ENSG00000186395 ENSG00000186395 HGNC:6413 MAP2K1 gene MAP2K1 Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardio-facio-cutaneous syndrome 29461977 False 3 100;0;0 3.27 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP3K3 gene MAP3K3 Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Verrucous haemangiomas 25728774 False 3 100;0;0 3.27 False ENSG00000198909 ENSG00000198909 HGNC:6855 MTOR gene MTOR Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypomelanosis of Ito/Blaschko-linear hypopigmentation 27159400 False 3 100;0;0 3.27 False ENSG00000198793 ENSG00000198793 HGNC:3942 MVD gene MVD Expert Review Green;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porokeratosis 7, multiple types, OMIM:614714 30942823;33491095 False 3 67;33;0 3.27 False ENSG00000167508 ENSG00000167508 HGNC:7529 NEK9 gene NEK9 Expert list;Expert Review Green;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nevus comedonicus, somatic, OMIM:617025 27153399;34184242;31961058;33481271 False 3 100;0;0 3.27 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 NF1 gene NF1 Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis type I 14605872;17668375 False 3 100;0;0 3.27 False ENSG00000196712 ENSG00000196712 HGNC:7765 NF2 gene NF2 Expert Review;Expert Review Green Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NEUROFIBROMATOSIS, TYPE II;NF2 29409008 False 3 0;0;0 3.27 False ENSG00000186575 ENSG00000186575 HGNC:7773 NRAS gene NRAS Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital melanocytic naevus syndrome;Melanocytic naevi;Noonan syndrome 22499344;10878667;24006476 False 3 100;0;0 3.27 False ENSG00000213281 ENSG00000213281 HGNC:7989 PIK3CA gene PIK3CA Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PIK3CA-related overgrowth syndromes;Vascular malformations 22499344;22729224;29446767;23100325 False 3 100;0;0 3.27 False ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R1 gene PIK3R1 Expert list;Expert Review Green;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vascular malformation and overgrowth 29174369;34040190;35964931 False 3 100;0;0 3.27 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 PORCN gene PORCN Expert Review Green;Other Mosaic skin disorders - deep sequencing Dermatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Focal dermal hypoplasia, OMIM:305600;focal dermal hypoplasia, MONDO:0010592 17546030;19309688 False 3 100;0;0 3.27 False ENSG00000102312 ENSG00000102312 HGNC:17652 PTCH1 gene PTCH1 Expert list;Expert Review Green;NHS GMS Mosaic skin disorders - deep sequencing Dermatology 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 3 100;0;0 3.27 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTEN gene PTEN Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bannayan-Riley-Ruvalcaba syndrome;Cowden syndrome;Epidermal naevi;Melanoma 10749983;12471211 False 3 100;0;0 3.27 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTPN11 gene PTPN11 Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phakomatosis pigmentovascularis (PPV), MONDO:0017318;LEOPARD syndrome 1, OMIM:151100;Speckled lentiginous naevus syndrome (deletion) Mosaic case series shortly to be published by Kinsler group False 3 100;0;0 3.27 False ENSG00000179295 ENSG00000179295 HGNC:9644 RASA1 gene RASA1 Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Capillary malformation-arteriovenous malformation syndrome 24038909;30635911 False 3 100;0;0 3.27 False ENSG00000145715 ENSG00000145715 HGNC:9871 RHOA gene RHOA Expert Review Green Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Blaschko-linear hypopigmentation syndrome 31570889 False 3 100;0;0 3.27 False ENSG00000067560 ENSG00000067560 HGNC:667 SMO gene SMO Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Curry-Jones syndrome 27236920 False 3 100;0;0 3.27 False ENSG00000128602 ENSG00000128602 HGNC:11119 SPRED1 gene SPRED1 Expert Review Green;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Legius syndrome 27423141 False 3 100;0;0 3.27 False ENSG00000166068 ENSG00000166068 HGNC:20249 TEK gene TEK Expert Review;Expert Review Green;NHS GMS Mosaic skin disorders - deep sequencing Dermatology 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 3 67;33;0 3.27 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 ARAF gene ARAF Expert list;Expert Review Amber Mosaic skin disorders - deep sequencing Dermatology 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 3.27 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 CARD14 gene CARD14 Expert Review Amber Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted inflammatory linear verrucous epidermal nevus, MONDO:0019318 34116062;35853659;38360177 False 2 67;0;33 3.27 False ENSG00000141527 ENSG00000141527 HGNC:16446 EGFR gene EGFR Expert list;Expert Review Amber Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted nonepidermolytic keratinocytic epidermal naevus 31745974 False 2 0;100;0 3.27 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 Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Capillary malformation-arteriovenous malformation 2, OMIM:618196 30760892 False 2 100;0;0 3.27 False ENSG00000196411 ENSG00000196411 HGNC:3395 GNB2 gene GNB2 Expert Review Amber;Literature Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sturge-Weber syndrome, somatic, mosaic, OMIM:185300 34124757 False 2 0;50;50 3.27 False ENSG00000172354 ENSG00000172354 HGNC:4398 KITLG gene KITLG Expert Review Amber;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology 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 3.27 False ENSG00000049130 ENSG00000049130 HGNC:6343 MVK gene MVK Expert Review Amber;London North GLH;NHS GMS Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porokeratosis 3, multiple types, OMIM:175900;porokeratosis 3, disseminated superficial actinic type, MONDO:0008293 22983302;24781643;26794421;31207227;31753123;39386107 False 2 67;0;33 3.27 False ENSG00000110921 ENSG00000110921 HGNC:7530 PMVK gene PMVK Expert Review Amber Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted inflammatory linear verrucous epidermal nevus, MONDO:0019318;Porokeratosis 1, multiple types OMIM:175800 30942823;35853659;38360177 False 2 67;33;0 3.27 False ENSG00000163344 ENSG00000163344 HGNC:9141 TP63 gene TP63 Expert list;Expert Review Amber Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292 18792980;22740388;27351625;28977327;34703865 False 2 100;0;0 3.27 False ENSG00000073282 ENSG00000073282 HGNC:15979 TSC1 gene TSC1 Expert Review;Expert Review Amber Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-1, OMIM:191100;tuberous sclerosis 1, MONDO:0008612 26540169;31160751;31114024;32461669;37141891;37356622 False 2 100;0;0 3.27 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review;Expert Review Amber Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-2, OMIM: 613254;tuberous sclerosis 2, MONDO:0013199 26540169;31160751;31114024;32461669;37141891;37356622 False 2 100;0;0 3.27 False ENSG00000103197 ENSG00000103197 HGNC:12363 GJA1 gene GJA1 Expert Review;Expert Review Red Mosaic skin disorders - deep sequencing Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown inflammatory linear verrucous epidermal nevus, MONDO:0019318 27890787 False 1 50;0;50 3.27 False ENSG00000152661 ENSG00000152661 HGNC:4274