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 ABCB6 gene ABCB6 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402 23519333 False 3 100;0;0 4.13 False ENSG00000115657 ENSG00000115657 HGNC:47 ADAM10 gene ADAM10 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Reticulate acropigmentation of Kitamura 23666529 False 3 100;0;0 4.13 False ENSG00000137845 ENSG00000137845 HGNC:188 ADAR gene ADAR Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyschromatosis symmetrica hereditaria, OMIM:127400;Aicardi-Goutieres syndrome 6, OMIM:615010 12916015;23001123;34418169;35076920;35832578 False 3 100;0;0 4.13 False ENSG00000160710 ENSG00000160710 HGNC:225 ANAPC1 gene ANAPC1 Expert Review Green;Literature Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368 31303264 False 3 100;0;0 4.13 False ENSG00000153107 ENSG00000153107 HGNC:19988 AP3B1 gene AP3B1 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal HERMANSKY-PUDLAK SYNDROME 2;Hermansky-Pudlak syndrome;HPS2 10024875;14566336 False 3 100;0;0 4.13 False ENSG00000132842 ENSG00000132842 HGNC:566 ARSE gene ARSE Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology X-LINKED: hemizygous mutation in males, biallelic mutations in females CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE;CDPX1;Chondrodysplasia punctata 7720070 False 3 100;0;0 4.13 False ENSG00000157399 ENSG00000157399 HGNC:719 BAP1 gene BAP1 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tumor predisposition syndrome 1, OMIM:614327;{Uveal melanoma, susceptibility to, 2}, OMIM:606661 21874003 False 3 100;0;0 4.13 False ENSG00000163930 ENSG00000163930 HGNC:950 BLM gene BLM Expert Review;Expert Review Green;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, OMIM:210900 PMID: 32972601 False 3 67;33;0 4.13 False ENSG00000197299 ENSG00000197299 HGNC:1058 BRAF gene BRAF Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardio-facio-cutaneous syndrome;Syringocystadenoma papilliferum;Melanocytic naevi;LPRD3, CARDIOFACIOCUTANEOUS SYNDROME 1;CFC1;LEOPARD SYNDROME 3 16474404;19206169 False 3 100;0;0 4.13 False ENSG00000157764 ENSG00000157764 HGNC:1097 BRCA1 gene BRCA1 Expert Review;Expert Review Green Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group S, OMIM:617883 29712865 False 3 100;0;0 4.13 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert Review;Expert Review Green Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D1, OMIM:605724 12065746 False 3 100;0;0 4.13 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert Review;Expert Review Green Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group J, OMIM:609054 16116424 False 3 100;0;0 4.13 False ENSG00000136492 ENSG00000136492 HGNC:20473 CBL gene CBL Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NSLL;NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA;Noonan-like disorder 20619386 False 3 100;0;0 4.13 False ENSG00000110395 ENSG00000110395 HGNC:1541 CDK4 gene CDK4 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3;Melanoma susceptibility;CMM3 15880589;8528263 False 3 100;0;0 4.13 False ENSG00000135446 ENSG00000135446 HGNC:1773 CDKN2A gene CDKN2A Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Melanoma, cutaneous malignant, 2}, OMIM:155601;{Melanoma and neural system tumor syndrome}, OMIM:155755;{Melanoma-pancreatic cancer syndrome}, OMIM:606719 20132244 False 3 100;0;0 4.13 False ENSG00000147889 ENSG00000147889 HGNC:1787 CIB1 gene CIB1 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3;Epidermodysplasia verruciformis 3, 618267;EV3 30068544 False 3 100;0;0 4.13 False ENSG00000185043 ENSG00000185043 HGNC:16920 COX7B gene COX7B Expert Review Green;Other Pigmentary skin disorders Dermatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Linear skin defects with multiple congenital anomalies 2, OMIM:300887 33670341 False 3 100;0;0 4.13 False ENSG00000131174 ENSG00000131174 HGNC:2291 DDX3X gene DDX3X Expert list;Expert Review Green Pigmentary skin disorders Dermatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, OMIM:300958 30349862 False 3 100;0;0 4.13 False ENSG00000215301 ENSG00000215301 HGNC:2745 DKC1 gene DKC1 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology X-LINKED: hemizygous mutation in males, biallelic mutations in females DKCX;DYSKERATOSIS CONGENITA, X-LINKED;Dyskeratosis congenita 9590285 False 3 100;0;0 4.13 False ENSG00000130826 ENSG00000130826 HGNC:2890 EDN3 gene EDN3 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal WAARDENBURG SYNDROME, TYPE 4B;WS4B;Waardenburg syndrome 8630503;8630502 False 3 100;0;0 4.13 False ENSG00000124205 ENSG00000124205 HGNC:3178 EDNRB gene EDNRB Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal WS4A;Waardenburg syndrome;WAARDENBURG SYNDROME, TYPE 4A 8634719;10528251 False 3 100;0;0 4.13 False ENSG00000136160 ENSG00000136160 HGNC:3180 ENPP1 gene ENPP1 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cole disease;COLED;COLE DISEASE 24075184 False 3 100;0;0 4.13 False ENSG00000197594 ENSG00000197594 HGNC:3356 ERCC4 gene ERCC4 Expert Review;Expert Review Green Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F;XPF 8797827 False 3 100;0;0 4.13 False ENSG00000175595 ENSG00000175595 HGNC:3436 FAM111B gene FAM111B Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary fibrosing poikiloderma;POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS;POIKTMP 24268661 False 3 100;0;0 4.13 False ENSG00000189057 ENSG00000189057 HGNC:24200 FANCA gene FANCA Expert Review;Expert Review Green Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal FANCA;FANCONI ANEMIA, COMPLEMENTATION GROUP A 8896564 False 3 100;0;0 4.13 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert Review;Expert Review Green Pigmentary skin disorders Dermatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) FANCONI ANEMIA, COMPLEMENTATION GROUP B;FANCB 15502827 False 3 100;0;0 4.13 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review;Expert Review Green Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP C;FANCC 8348157 False 3 100;0;0 4.13 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review;Expert Review Green Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal FANCD2;FANCONI ANEMIA, COMPLEMENTATION GROUP D2 11239453 False 3 100;0;0 4.13 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review;Expert Review Green Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal FANCE;FANCONI ANEMIA, COMPLEMENTATION GROUP E 11001585 False 3 100;0;0 4.13 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review;Expert Review Green Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP F;FANCF 10615118 False 3 100;0;0 4.13 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review;Expert Review Green Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal FANCG;FANCONI ANEMIA, COMPLEMENTATION GROUP G 9806548 False 3 100;0;0 4.13 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review;Expert Review Green Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal FANCI;FANCONI ANEMIA, COMPLEMENTATION GROUP I 17452773 False 3 100;0;0 4.13 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review;Expert Review Green Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP L;FANCL 25754594;12973351;19405097 False 3 100;0;0 4.13 False ENSG00000115392 ENSG00000115392 HGNC:20748 FGF23 gene FGF23 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Familial tumoural calcinosis;ADHR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2;HFTC2;HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT 11062477;15590700 False 3 100;0;0 4.13 False ENSG00000118972 ENSG00000118972 HGNC:3680 GALNT3 gene GALNT3 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal HFTC1;Familial tumoural calcinosis;TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 15133511 False 3 100;0;0 4.13 False ENSG00000115339 ENSG00000115339 HGNC:4125 GJA1 gene GJA1 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Erythrokeratodermia variabilis et progressiva 3, OMIM:617525;Palmoplantar keratoderma with congenital alopecia, OMIM:104100 25398053 False 3 100;0;0 4.13 False ENSG00000152661 ENSG00000152661 HGNC:4274 GJB3 gene GJB3 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1;EKVP1;Erythrokeratodermia variabilis 9843209 False 3 100;0;0 4.13 False ENSG00000188910 ENSG00000188910 HGNC:4285 GJB4 gene GJB4 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Erythrokeratodermia variabilis et progressiva 2, OMIM:617524 12648223 False 3 100;0;0 4.13 False ENSG00000189433 ENSG00000189433 HGNC:4286 GPNMB gene GPNMB Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3, 617920 29336782 False 3 100;0;0 4.13 False ENSG00000136235 ENSG00000136235 HGNC:4462 HCCS gene HCCS Expert Review Green;Other Pigmentary skin disorders Dermatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Linear skin defects with multiple congenital anomalies 1, OMIM:309801 33670341 False 3 100;0;0 4.13 False ENSG00000004961 ENSG00000004961 HGNC:4837 HPS1 gene HPS1 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome;HERMANSKY-PUDLAK SYNDROME 1;HPS1 9497254 False 3 100;0;0 4.13 False ENSG00000107521 ENSG00000107521 HGNC:5163 HRAS gene HRAS Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CSTLO;Costello syndrome;Phakomatosis pigmentokeratotica;Epidermal naevi;Woolly hair;Schimmelpenning syndrome;COSTELLO SYNDROME 16170316 False 3 100;0;0 4.13 False ENSG00000174775 ENSG00000174775 HGNC:5173 KIT gene KIT Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Mastocytosis, cutaneous, OMIM:154800;Piebaldism, OMIM:172800 9990072;1370874;23399981 False 3 100;0;0 4.13 False ENSG00000157404 ENSG00000157404 HGNC:6342 KITLG gene KITLG Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperpigmentation with or without hypopigmentation, OMIM:145250;Progressive hyper-and hypopigmentation;Blaschko-linear hypopigmentation;FPHH 21368769 False 3 100;0;0 4.13 False ENSG00000049130 ENSG00000049130 HGNC:6343 KRAS gene KRAS Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NOONAN SYNDROME 3, CARDIOFACIOCUTANEOUS SYNDROME 2;NOONAN SYNDROME 3, 609942;CFC2 16474404;19396835;17468812 False 3 100;0;0 4.13 False ENSG00000133703 ENSG00000133703 HGNC:6407 KRT10 gene KRT10 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal CRIE;Ichythosis with confetti;Pachyonychia congenita;Palmoplantar keratoderma;Epidermolytic hyperkeratosis;ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR 7508181 False 3 100;0;0 4.13 False ENSG00000186395 ENSG00000186395 HGNC:6413 KRT14 gene KRT14 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal DPR;Epidermolysis bullosa;DERMATOPATHIA PIGMENTOSA RETICULARIS;Naegeli-Franceschetti-Jadassohn syndrome;Dermatopathia pigmentosa reticularis 16960809 False 3 100;0;0 4.13 False ENSG00000186847 ENSG00000186847 HGNC:6416 KRT5 gene KRT5 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DOWLING-DEGOS DISEASE 1;DDD1;Epidermolysis bullosa;Dowling-Degos disease 16465624 False 3 100;0;0 4.13 False ENSG00000186081 ENSG00000186081 HGNC:6442 LMNA gene LMNA Expert list;Expert Review Green;NHS GMS Pigmentary skin disorders Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hutchinson-Gilford progeria, OMIM:176670;Hutchinson-Gilford progeria syndrome, MONDO:0008310;Mandibuloacral dysplasia, OMIM:248370;mandibuloacral dysplasia with type A lipodystrophy MONDO:0009557 12714972;12075506;17848409 False 3 100;0;0 4.13 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000160789 ENSG00000160789 HGNC:6636 LYST gene LYST Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome;CHEDIAK-HIGASHI SYNDROME;CHS 8896560 False 3 100;0;0 4.13 False ENSG00000143669 ENSG00000143669 HGNC:1968 LZTR1 gene LZTR1 Expert Review;Expert Review Green Pigmentary skin disorders Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal NOONAN SYNDROME 10;NS2;NS10, NOONAN SYNDROME 2;Schwannomatosis-2, susceptibility to 615670;Noonan syndrome 10 616564 29469822;25795793;35361920;39140257;39258154 False 3 100;0;0 4.13 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAP2K1 gene MAP2K1 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous Syndrome;CFC syndrome;LEOPARD syndrome;CFC3;Cardio-Facio-Cutaneous syndrome;?Noonan syndrome;Cardiofaciocutaneous syndrome 3;CARDIOFACIOCUTANEOUS SYNDROME 3 16439621 False 3 100;0;0 4.13 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CARDIOFACIOCUTANEOUS SYNDROME 4, 615280 18042262 False 3 100;0;0 4.13 False ENSG00000126934 ENSG00000126934 HGNC:6842 MITF gene MITF Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal COMMAD, WAARDENBURG SYNDROME, TYPE 2A;COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS;Waardenburg syndrome;WS2A 27889061;7874167 False 3 100;0;0 4.13 False ENSG00000187098 ENSG00000187098 HGNC:7105 MLH1 gene MLH1 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal MISMATCH REPAIR CANCER SYNDROME, 276300 17440981 False 3 100;0;0 4.13 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal MISMATCH REPAIR CANCER SYNDROME, 276300 16372347 False 3 100;0;0 4.13 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal MISMATCH REPAIR CANCER SYNDROME, 276300 16283678 False 3 100;0;0 4.13 False ENSG00000116062 ENSG00000116062 HGNC:7329 MTOR gene MTOR Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SKS;SMITH-KINGSMORE SYNDROME;Hypomelanosis of Ito/Blaschko-linear hypopigmentation 27830187 False 3 100;0;0 4.13 False ENSG00000198793 ENSG00000198793 HGNC:3942 MYO5A gene MYO5A Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal GRISCELLI SYNDROME, TYPE 1;GS1;Griscelli syndrome 9207796 False 3 100;0;0 4.13 False ENSG00000197535 ENSG00000197535 HGNC:7602 NF1 gene NF1 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NEUROFIBROMATOSIS, TYPE I;NF1;Neurofibromatosis type I 9003501 False 3 100;0;0 4.13 False ENSG00000196712 ENSG00000196712 HGNC:7765 NF2 gene NF2 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NF2;Neurofibromatosis type 2;NEUROFIBROMATOSIS, TYPE II 7913580 False 3 100;0;0 4.13 False ENSG00000186575 ENSG00000186575 HGNC:7773 NRAS gene NRAS Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital melanocytic naevus syndrome;Melanocytic naevi;NOONAN SYNDROME 6;Noonan syndrome;NS6 19966803 False 3 100;0;0 4.13 False ENSG00000213281 ENSG00000213281 HGNC:7989 OCA2 gene OCA2 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal OCA2;Oculocutaneous albinism;ALBINISM, OCULOCUTANEOUS, TYPE II 8302318 False 3 100;0;0 4.13 False ENSG00000104044 ENSG00000104044 HGNC:8101 OSMR gene OSMR Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis cutis;PLCA1;AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 18179886 False 3 100;0;0 4.13 False ENSG00000145623 ENSG00000145623 HGNC:8507 PALB2 gene PALB2 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Fanconi Anaemia;FANCN;FANCONI ANEMIA, COMPLEMENTATION GROUP N 17200672 False 3 100;0;0 4.13 False ENSG00000083093 ENSG00000083093 HGNC:26144 PAX3 gene PAX3 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal WAARDENBURG SYNDROME, TYPE 1;WS3;Waardenburg syndrome;WS1, WAARDENBURG SYNDROME, TYPE 3 8533800;8447316 False 3 100;0;0 4.13 False ENSG00000135903 ENSG00000135903 HGNC:8617 PHF6 gene PHF6 Expert list;Expert Review Green Pigmentary skin disorders Dermatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Borjeson-Forssman-Lehmann syndrome, OMIM:301900;Fine and whorled Blaschko-linear hypo or hyperpigmentation 24092917;25099957 False 3 100;0;0 4.13 False ENSG00000156531 ENSG00000156531 HGNC:18145 PIK3CA gene PIK3CA Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MCAP;PIK3CA-related overgrowth syndromes;MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME;Vascular malformations 22729224 False 3 100;0;0 4.13 False ENSG00000121879 ENSG00000121879 HGNC:8975 PMS2 gene PMS2 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal MISMATCH REPAIR CANCER SYNDROME, 276300 10763829 False 3 100;0;0 4.13 False ENSG00000122512 ENSG00000122512 HGNC:9122 POFUT1 gene POFUT1 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DOWLING-DEGOS DISEASE 2;DDD2;Dowling-Degos disease 23684010 False 3 100;0;0 4.13 False ENSG00000101346 ENSG00000101346 HGNC:14988 POGLUT1 gene POGLUT1 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DDD4;DOWLING-DEGOS DISEASE 4;Dowling-Degos disease 24387993 False 3 100;0;0 4.13 False ENSG00000163389 ENSG00000163389 HGNC:22954 PORCN gene PORCN Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Angioma serpiginosa;FOCAL DERMAL HYPOPLASIA;Focal dermal hypoplasia;FDH 17546030 False 3 100;0;0 4.13 False ENSG00000102312 ENSG00000102312 HGNC:17652 PPP1CB gene PPP1CB Expert Review Green;Other Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NSLH2;Rasopathy with developmental delay, short stature and sparse slow-growing hair;NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2;Noonan syndrome-like disorder with loose anagen hair 2, 617506 27264673 False 3 100;0;0 4.13 False ENSG00000213639 ENSG00000213639 HGNC:9282 PRKAR1A gene PRKAR1A Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PPNAD1;CARNEY COMPLEX, TYPE 1;Carney complex;CNC1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 12213893;10973256 False 3 100;0;0 4.13 False ENSG00000108946 ENSG00000108946 HGNC:9388 PSENEN gene PSENEN Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE;ACNINV2;Dowling-Degos disease 20929727 False 3 100;0;0 4.13 False ENSG00000205155 ENSG00000205155 HGNC:30100 PTEN gene PTEN Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bannayan-Riley-Ruvalcaba syndrome;COWDEN SYNDROME 1;Melanoma;Cowden syndrome;CWS1;Epidermal naevi 9140396 False 3 100;0;0 4.13 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTPN11 gene PTPN11 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome with lentigines (LEOPARD);LEOPARD SYNDROME 1;LPRD1, NOONAN SYNDROME 1;Noonan syndrome;NS1 11704759;15389709 False 3 100;0;0 4.13 False ENSG00000179295 ENSG00000179295 HGNC:9644 RAB27A gene RAB27A Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal GS2;GRISCELLI SYNDROME, TYPE 2;Griscelli syndrome 10835631 False 3 100;0;0 4.13 False ENSG00000069974 ENSG00000069974 HGNC:9766 RAF1 gene RAF1 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NS5;Noonan syndrome with lentigines (LEOPARD);LEOPARD SYNDROME 2;Noonan syndrome;LPRD2, NOONAN SYNDROME 5 17603483 False 3 100;0;0 4.13 False ENSG00000132155 ENSG00000132155 HGNC:9829 RECQL4 gene RECQL4 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Baller-Gerold syndrome, OMIM:218600;Rothmund-Thomson syndrome, type 2, OMIM:268400 12952869;10319867 False 3 100;0;0 4.13 False ENSG00000160957 ENSG00000160957 HGNC:9949 RIT1 gene RIT1 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NOONAN SYNDROME 8;NS8;Noonan syndrome 8, 615355 23791108 False 3 100;0;0 4.13 False ENSG00000143622 ENSG00000143622 HGNC:10023 SAMD9 gene SAMD9 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Familial tumoural calcinosis;MIRAGE;NFTC, MIRAGE SYNDROME;TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL 27182967;16960814 False 3 100;0;0 4.13 False ENSG00000205413 ENSG00000205413 HGNC:1348 SASH1 gene SASH1 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyschromatosis universalis hereditaria 1, OMIM:127500 (AD);?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373 (AR) 27659786 False 3 100;0;0 4.13 False ENSG00000111961 ENSG00000111961 HGNC:19182 SHOC2 gene SHOC2 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NSLH1;Noonan-like syndrome with loose anagen hair;NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 19684605 False 3 100;0;0 4.13 False ENSG00000108061 ENSG00000108061 HGNC:15454 SLC24A5 gene SLC24A5 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal OCA6;Oculocutaneous albinism;Predisposition to melanoma;ALBINISM, OCULOCUTANEOUS, TYPE VI 23364476 False 3 100;0;0 4.13 False ENSG00000188467 ENSG00000188467 HGNC:20611 SLC29A3 gene SLC29A3 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 18940313 False 3 100;0;0 4.13 False ENSG00000198246 ENSG00000198246 HGNC:23096 SLC45A2 gene SLC45A2 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal OCA4;Oculocutaneous albinism;Predisposition to melanoma;ALBINISM, OCULOCUTANEOUS, TYPE IV 14722913 False 3 100;0;0 4.13 False ENSG00000164175 ENSG00000164175 HGNC:16472 SLX4 gene SLX4 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Fanconi Anaemia;FANCP;FANCONI ANEMIA, COMPLEMENTATION GROUP P 21240277 False 3 100;0;0 4.13 False ENSG00000188827 ENSG00000188827 HGNC:23845 SMARCAL1 gene SMARCAL1 Expert Review Green;Other Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia, OMIM:242900 11799392;20301550 False 3 100;0;0 4.13 False ENSG00000138375 ENSG00000138375 HGNC:11102 SOS1 gene SOS1 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NOONAN SYNDROME 4;NS4;Noonan syndrome 17143285 False 3 100;0;0 4.13 False ENSG00000115904 ENSG00000115904 HGNC:11187 SOS2 gene SOS2 Expert Review;Expert Review Green Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NS9;NOONAN SYNDROME 9;Noonan syndrome 9 616559 25795793 False 3 100;0;0 4.13 False ENSG00000100485 ENSG00000100485 HGNC:11188 SOX10 gene SOX10 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PCWH, WAARDENBURG SYNDROME, TYPE 4C;Waardenburg syndrome;PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE;WS4C, WAARDENBURG SYNDROME, TYPE 2E;WS2E 9462749;21965087;10762540 False 3 100;0;0 4.13 False ENSG00000100146 ENSG00000100146 HGNC:11190 SOX18 gene SOX18 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME;Hypotrichosis-lymphedema-telangiectasia syndrome;HLTS, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME;HLTRS 12740761 False 3 100;0;0 4.13 False ENSG00000203883 ENSG00000203883 HGNC:11194 SPRED1 gene SPRED1 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LEGIUS SYNDROME;LGSS;Legius syndrome 17704776 False 3 100;0;0 4.13 False ENSG00000166068 ENSG00000166068 HGNC:20249 STK11 gene STK11 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PJS;Peutz-Jeghers syndrome;PEUTZ-JEGHERS SYNDROME 9425897 False 3 100;0;0 4.13 False ENSG00000118046 ENSG00000118046 HGNC:11389 TERC gene TERC Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1;Dyskeratosis congenita;DKCA1 11574891 False 3 100;0;0 4.13 False ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal dominant 2, OMIM:613989;Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 17785587;18460650 False 3 100;0;0 4.13 False ENSG00000164362 ENSG00000164362 HGNC:11730 TFE3 gene TFE3 Expert list;Expert Review Green Pigmentary skin disorders Dermatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, OMIM:301066 32409512 False 3 100;0;0 4.13 False ENSG00000068323 ENSG00000068323 HGNC:11752 TINF2 gene TINF2 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3;Revesz syndrome;Dyskeratosis congenita;DKCA3, REVESZ SYNDROME 21477109;18252230 False 3 100;0;0 4.13 False ENSG00000092330 ENSG00000092330 HGNC:11824 TMC6 gene TMC6 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Epidermodysplasia verruciformis, 226400;EV1;EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 12426567 False 3 100;0;0 4.13 False ENSG00000141524 ENSG00000141524 HGNC:18021 TMC8 gene TMC8 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2;Epidermodysplasia verruciformis 2, 618231;EV2 12426567 False 3 100;0;0 4.13 False ENSG00000167895 ENSG00000167895 HGNC:20474 TSC1 gene TSC1 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis;TSC1;TUBEROUS SCLEROSIS 1 10227394 False 3 100;0;0 4.13 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis;TUBEROUS SCLEROSIS 2;TSC2 12111193 False 3 100;0;0 4.13 False ENSG00000103197 ENSG00000103197 HGNC:12363 TYR gene TYR Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type IA, OMIM:203100;Albinism, oculocutaneous, type IB, OMIM:606952;Waardenburg syndrome/albinism, digenic, OMIM:103470 18326704 False 3 100;0;0 4.13 False ENSG00000077498 ENSG00000077498 HGNC:12442 TYRP1 gene TYRP1 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Oculocutaneous albinism;OCA3;ALBINISM, OCULOCUTANEOUS, TYPE III 9345097 False 3 100;0;0 4.13 False ENSG00000107165 ENSG00000107165 HGNC:12450 UBE2T gene UBE2T Expert Review;Expert Review Green Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal FANCT;FANCONI ANEMIA, COMPLEMENTATION GROUP T 26046368 False 3 100;0;0 4.13 False ENSG00000077152 ENSG00000077152 HGNC:25009 USB1 gene USB1 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Poikiloderma with neutropenia;PN;POIKILODERMA WITH NEUTROPENIA 20004881 False 3 100;0;0 4.13 False ENSG00000103005 ENSG00000103005 HGNC:25792 USP9X gene USP9X Expert list;Expert Review Green Pigmentary skin disorders Dermatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, OMIM:300968 26833328 False 3 100;0;0 4.13 False ENSG00000124486 ENSG00000124486 HGNC:12632 WRAP53 gene WRAP53 Expert Review Green;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita;DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3;DKCB3 21205863 False 3 100;0;0 4.13 False ENSG00000141499 ENSG00000141499 HGNC:25522 ABCD4 gene ABCD4 Expert Review Amber;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Progressive hyperpigmentation due to VitB12 metabolism defect 25234635 False 2 50;50;0 4.13 False ENSG00000119688 ENSG00000119688 HGNC:68 FLNA gene FLNA Expert Review Amber;London North GLH;NHS GMS Pigmentary skin disorders Dermatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Terminal osseous dysplasia, OMIM:300244 17152064;18792982;20598277;30561107 False 2 0;50;50 4.13 False ENSG00000196924 ENSG00000196924 HGNC:3754 IL31RA gene IL31RA Expert Review Amber Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 4.13 False ENSG00000164509 ENSG00000164509 HGNC:18969 LTV1 gene LTV1 Expert Review Amber;Literature Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Inflammatory poikiloderma with hair abnormalities and acral keratoses, OMIM:620199 34999892 False 2 0;100;0 4.13 False ENSG00000135521 ENSG00000135521 HGNC:21173 MAD2L2 gene MAD2L2 Expert Review;Expert Review Amber Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal FANCV;FANCONI ANEMIA, COMPLEMENTATION GROUP V 27500492 False 2 50;50;0 4.13 False ENSG00000116670 ENSG00000116670 HGNC:6764 MLPH gene MLPH Expert Review Amber Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal False 2 33;67;0 4.13 False ENSG00000115648 ENSG00000115648 HGNC:29643 NDUFB11 gene NDUFB11 Expert Review Amber;Other Pigmentary skin disorders Dermatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Linear skin defects with multiple congenital anomalies 3, OMIM:300952 33670341 False 2 100;0;0 4.13 False ENSG00000147123 ENSG00000147123 HGNC:20372 RAD51C gene RAD51C Expert Review;Expert Review Amber Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP O;FANCO 20400963 False 2 50;50;0 4.13 False ENSG00000108384 ENSG00000108384 HGNC:9820 SNAI2 gene SNAI2 Expert Review Amber;London North GLH;NHS GMS Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal Piebaldism False 2 60;40;0 4.13 False ENSG00000019549 ENSG00000019549 HGNC:11094 XRCC2 gene XRCC2 Expert Review;Expert Review Amber Pigmentary skin disorders Dermatology BIALLELIC, autosomal or pseudoautosomal ?Fanconi anemia, complementation group U, OMIM:617247;Fanconi anemia complementation group U, MONDO:0014987 22232082;27208205 False 2 67;33;0 4.13 False ENSG00000196584 ENSG00000196584 HGNC:12829 ISCA-37431-Loss region Expert Review Green;Expert Review;ClinGen Pigmentary skin disorders Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown dysmorphic features, cardiac anomalies and mental retardation;613675;variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors;NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME;NF1 MICRODELETION SYNDROME;Chromosome 17q11.2 deletion syndrome, 1.4Mb False 3 100;0;0 4.13 False 17 30780079 31937008 3 60 cnv_loss 17q11.2 recurrent region (includes NF1) Loss