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;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Becker nevus, somatic mosaic, MIM# 604919 Abnormality of skin pigmentation;HP:0001000 28347698 False 3 100;0;0 1.12 True ENSG00000075624 ENSG00000075624 HGNC:132 AKT1 gene AKT1 Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Proteus syndrome, somatic 176920" Abnormality of skin pigmentation;HP:0001000 33030203;21793738 False 3 100;0;0 1.12 True ENSG00000142208 ENSG00000142208 HGNC:391 AKT3 gene AKT3 Expert Review Green;Literature Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly syndromes Abnormality of skin pigmentation;HP:0001000 22729224;28969385 False 3 100;0;0 1.12 True ENSG00000117020 ENSG00000117020 HGNC:393 ATP2A2 gene ATP2A2 Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Darier disease, MIM# 124200 Abnormality of skin pigmentation;HP:0001000 30085326;26154588;21720150;12890216 False 3 100;0;0 1.12 True ENSG00000174437 ENSG00000174437 HGNC:812 BRAF gene BRAF Expert Review Green;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Melanocytic naevus syndrome (MONDO:0044792;MIM#137550) Abnormality of skin pigmentation;HP:0001000 31111470 False 3 0;0;0 1.12 True 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;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epidermal naevi Abnormality of skin pigmentation;HP:0001000 26942290 False 3 100;0;0 1.12 True ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Keratinocytic epidermal naevi Abnormality of skin pigmentation;HP:0001000 9728990;31937562;30580445 False 3 100;0;0 1.12 True ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epidermal naevi;Syringocystadenoma papilliferum Abnormality of skin pigmentation;HP:0001000 22499344;16841094 False 3 100;0;0 1.12 True ENSG00000068078 ENSG00000068078 HGNC:3690 GNA11 gene GNA11 Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Extensive dermal melanocytosis;Phakomatosis pigmentovascularis Abnormality of skin pigmentation;HP:0001000 26778290 False 3 100;0;0 1.12 True ENSG00000088256 ENSG00000088256 HGNC:4379 GNA14 gene GNA14 Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kaposiform endothelioma;Tufted angioma Abnormality of skin pigmentation;HP:0001000 27476652 False 3 100;0;0 1.12 True ENSG00000156049 ENSG00000156049 HGNC:4382 GNAQ gene GNAQ Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Extensive dermal melanocytosis;Sturge Weber syndrome;Phakomatosis pigmentovascularis Abnormality of skin pigmentation;HP:0001000 26778290 False 3 100;0;0 1.12 True ENSG00000156052 ENSG00000156052 HGNC:4390 GNAS gene GNAS Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown McCune-Albright syndrome Abnormality of skin pigmentation;HP:0001000 12970318;15126527;10646121;1594625;1944469 False 3 100;0;0 1.12 True ENSG00000087460 ENSG00000087460 HGNC:4392 HRAS gene HRAS Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phakomatosis pigmentokeratotica;Epidermal naevi;Woolly hair;Costello syndrome;Schimmelpenning syndrome Abnormality of skin pigmentation;HP:0001000 22499344;22683711;24006476 False 3 100;0;0 1.12 True ENSG00000174775 ENSG00000174775 HGNC:5173 IDH1 gene IDH1 Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Maffucci syndrome;Ollier disease Abnormality of skin pigmentation;HP:0001000 22057234 False 3 100;0;0 1.12 True ENSG00000138413 ENSG00000138413 HGNC:5382 IDH2 gene IDH2 Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Maffucci syndrome;Ollier disease Abnormality of skin pigmentation;HP:0001000 22057234 False 3 100;0;0 1.12 True ENSG00000182054 ENSG00000182054 HGNC:5383 IKBKG gene IKBKG Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Incontinentia pigmenti, 308300 Abnormality of skin pigmentation;HP:0001000 32908217;29077987 False 3 100;0;0 1.12 True ENSG00000073009 ENSG00000269335 HGNC:5961 KRAS gene KRAS Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epidermal naevi;Schimmelpenning syndrome Abnormality of skin pigmentation;HP:0001000 22499344;22683711 False 3 100;0;0 1.12 True ENSG00000133703 ENSG00000133703 HGNC:6407 KRT1 gene KRT1 Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ichthyosis histrix;Epidermolytic hyperkeratosis;Palmoplantar keratoderma Abnormality of skin pigmentation;HP:0001000 28532675;17255957 False 3 100;0;0 1.12 True ENSG00000167768 ENSG00000167768 HGNC:6412 KRT10 gene KRT10 Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epidermolytic hyperkeratosis;Pachyonychia congenita;Ichythosis with confetti;Palmoplantar keratoderma Abnormality of skin pigmentation;HP:0001000 25495838;29135017 False 3 100;0;0 1.12 True ENSG00000186395 ENSG00000186395 HGNC:6413 MAP3K3 gene MAP3K3 Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Verrucous haemangiomas Abnormality of skin pigmentation;HP:0001000 25728774 False 3 100;0;0 1.12 True ENSG00000198909 ENSG00000198909 HGNC:6855 MTOR gene MTOR Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypomelanosis of Ito/Blaschko-linear hypopigmentation Abnormality of skin pigmentation;HP:0001000 27159400 False 3 100;0;0 1.12 True ENSG00000198793 ENSG00000198793 HGNC:3942 MVD gene MVD Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Linear porokeratosis;Porokeratosis 7, multiple types, MIM# 614714 Abnormality of skin pigmentation;HP:0001000 30942823;33491095 False 3 100;0;0 1.12 True ENSG00000167508 ENSG00000167508 HGNC:7529 NF1 gene NF1 Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis type I, MIM#162200 Abnormality of skin pigmentation;HP:0001000 14605872;17668375 False 3 100;0;0 1.12 True ENSG00000196712 ENSG00000196712 HGNC:7765 NF2 gene NF2 Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schwannomatosis, somatic 162091;Meningioma, NF2-related, somatic 607174;Neurofibromatosis, type 2 101000 Abnormality of skin pigmentation;HP:0001000 29409008 False 3 100;0;0 1.12 True ENSG00000186575 ENSG00000186575 HGNC:7773 NRAS gene NRAS Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome;Melanocytic naevi;Congenital melanocytic naevus syndrome Abnormality of skin pigmentation;HP:0001000 22499344;24006476;10878667 False 3 100;0;0 1.12 True ENSG00000213281 ENSG00000213281 HGNC:7989 PIK3CA gene PIK3CA Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vascular malformations;PIK3CA-related overgrowth syndromes;CLAPO syndrome, somatic 613089;CLOVE syndrome, somatic 612918;Nevus, epidermal, somatic 162900 Abnormality of skin pigmentation;HP:0001000 22499344;23100325;22729224;29446767 False 3 100;0;0 1.12 True ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R2 gene PIK3R2 Expert Review Green;Literature Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly syndromes Abnormality of skin pigmentation;HP:0001000 PMID: 22729224 False 3 100;0;0 1.12 True ENSG00000105647 ENSG00000105647 HGNC:8980 PORCN gene PORCN Expert Review Green;NHS GMS Mosaic skin disorders Dermatological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Focal dermal hypoplasia (MONDO:0010592;MIM#305600) Abnormality of skin pigmentation;HP:0001000 17546030;19309688 False 3 100;0;0 1.12 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000102312 ENSG00000102312 HGNC:17652 PTEN gene PTEN Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epidermal naevi;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome;Melanoma Abnormality of skin pigmentation;HP:0001000 12471211;10749983 False 3 100;0;0 1.12 True ENSG00000171862 ENSG00000171862 HGNC:9588 RHOA gene RHOA Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Blaschko-linear hypopigmentation syndrome Abnormality of skin pigmentation;HP:0001000 31570889 False 3 100;0;0 1.12 True ENSG00000067560 ENSG00000067560 HGNC:667 SMO gene SMO Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Curry-Jones syndrome, MIM#601707 Abnormality of skin pigmentation;HP:0001000 27236920 False 3 100;0;0 1.12 True ENSG00000128602 ENSG00000128602 HGNC:11119 SPRED1 gene SPRED1 Expert Review Green;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Legius syndrome, MIM# 611431" Abnormality of skin pigmentation;HP:0001000 27423141 False 3 100;0;0 1.12 True ENSG00000166068 ENSG00000166068 HGNC:20249 TSC1 gene TSC1 Expert Review;Expert Review Green;Literature Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-1, MIM# 191100 Abnormality of skin pigmentation;HP:0001000 PMID: 26540169 False 3 100;0;0 1.12 True ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review;Expert Review Green;Literature Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-2, MIM# 613254 Abnormality of skin pigmentation;HP:0001000 PMID: 26540169 False 3 100;0;0 1.12 True ENSG00000103197 ENSG00000103197 HGNC:12363 CARD14 gene CARD14 Expert Review Amber;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inflammatory linear verrucous epidermal naevus Abnormality of skin pigmentation;HP:0001000 34116062 False 2 0;50;50 1.12 True Other ENSG00000141527 ENSG00000141527 HGNC:16446 MAP2K1 gene MAP2K1 Expert Review Amber;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted vascular malformations Abnormality of skin pigmentation;HP:0001000 29461977 False 2 50;50;0 1.12 True ENSG00000169032 ENSG00000169032 HGNC:6840 PMVK gene PMVK Expert Review Amber;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Linear porokeratosis;Porokeratosis 1, multiple types, MIM# 175800 Abnormality of skin pigmentation;HP:0001000 30942823;26202976 False 2 0;100;0 1.12 True ENSG00000163344 ENSG00000163344 HGNC:9141 RASA1 gene RASA1 Expert Review Amber;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Capillary malformation-arteriovenous malformation syndrome Abnormality of skin pigmentation;HP:0001000 30635911;24038909 False 2 50;50;0 1.12 True ENSG00000145715 ENSG00000145715 HGNC:9871 TEK gene TEK Expert Review Amber;Genomics England PanelApp;NHS GMS Mosaic skin disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Venous malformations, multiple cutaneous and mucosal, 600195 Abnormality of skin pigmentation;HP:0001000 27519652 False 2 0;100;0 1.12 True ENSG00000120156 ENSG00000120156 HGNC:11724