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 list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted dyschromatosis universalis hereditaria 3 MONDO:0014169 Abnormality of skin pigmentation;HP:0001000 23519333;24224009;24498303;25288164;35024399;30430618 False 3 100;0;0 1.5 True ENSG00000115657 ENSG00000115657 HGNC:47 ACD gene ACD Expert Review Green;Literature;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal ACD-related short telomere syndrome MONDO:0100569 Abnormality of skin pigmentation;HP:0001000 27807141;31515401;30995915;27528712;25205116;24316971;30064976;33446513;25233904 False 3 50;0;50 1.5 True ENSG00000102977 ENSG00000102977 HGNC:25070 ADAM10 gene ADAM10 Expert Review Green;Literature Hereditary Pigmentary Disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted reticulate acropigmentation of Kitamura MONDO:0014234 Abnormality of skin pigmentation;HP:0001000 23666529;30488468 False 3 100;0;0 1.5 True ENSG00000137845 ENSG00000137845 HGNC:188 ADAR gene ADAR Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ADAR-related type 1 interferonopathy MONDO:0700261 Abnormality of skin pigmentation;HP:0001000 28561207;25982145;24262145;37770123;32911246;18705826 False 3 100;0;0 1.5 True ENSG00000160710 ENSG00000160710 HGNC:225 DDB2 gene DDB2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal xeroderma pigmentosum group E MONDO:0010213 Abnormality of skin pigmentation;HP:0001000 33276309;32530099;32239545;32228487 False 3 100;0;0 1.5 True ENSG00000134574 ENSG00000134574 HGNC:2718 DKC1 gene DKC1 Expert list;Expert Review;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) dyskeratosis congenita, X-linked MONDO:0010584 Abnormality of skin pigmentation;HP:0001000 31269755;26951492;29081935;25940403 False 3 100;0;0 1.5 True ENSG00000130826 ENSG00000130826 HGNC:2890 EDN3 gene EDN3 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Waardenburg syndrome type 4B MONDO:0013201 Abnormality of skin pigmentation;HP:0001000 8630502;11303518;9359047;10231870;30171849;27370713 False 3 100;0;0 1.5 True ENSG00000124205 ENSG00000124205 HGNC:3178 EDNRB gene EDNRB Expert list;Expert Review Green Hereditary Pigmentary Disorders Dermatological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Waardenburg syndrome type 4A MONDO:0010192 Abnormality of skin pigmentation;HP:0001000 28502583;25852447;21373256;16237557;11773966;11891690;8001158;10528251;10528251;19764031;28236341 False 3 100;0;0 1.5 True ENSG00000136160 ENSG00000136160 HGNC:3180 ERCC1 gene ERCC1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal cerebrooculofacioskeletal syndrome 4 MONDO:0012554;Xeroderma pigmentosum Abnormality of skin pigmentation;HP:0001000 17273966;23623389;32557569;26085086;33315086 False 3 100;0;0 1.5 True ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC2 gene ERCC2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal xeroderma pigmentosum group D MONDO:0010212 Abnormality of skin pigmentation;HP:0001000 7849702;9758621;11443545;33733458 False 3 100;0;0 1.5 True ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal xeroderma pigmentosum group B MONDO:0012531 Abnormality of skin pigmentation;HP:0001000 2167179;10447254;16947863;9012405;32557569;27004399 False 3 100;0;0 1.5 True ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal xeroderma pigmentosum group F MONDO:0010215 Abnormality of skin pigmentation;HP:0001000 23623386;8797827;23623389;17183314;29105242 False 3 100;0;0 1.5 True ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal xeroderma pigmentosum group G MONDO:0010216 Abnormality of skin pigmentation;HP:0001000 30838033;24700531 False 3 100;0;0 1.5 True ENSG00000134899 ENSG00000134899 HGNC:3437 GPNMB gene GPNMB Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal amyloidosis, primary localized cutaneous, 3 MONDO:0054765 Abnormality of skin pigmentation;HP:0001000 29336782 False 3 100;0;0 1.5 True ENSG00000136235 ENSG00000136235 HGNC:4462 IKBKG gene IKBKG Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary 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 MONDO:0010631 Abnormality of skin pigmentation;HP:0001000 31874111;35289316 False 3 100;0;0 1.5 True ENSG00000073009 ENSG00000269335 HGNC:5961 KIT gene KIT Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted piebaldism MONDO:0008244 Abnormality of skin pigmentation;HP:0001000 1717985;1384325;9699740 False 3 100;0;0 1.5 True ENSG00000157404 ENSG00000157404 HGNC:6342 KITLG gene KITLG Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "hyperpigmentation with or without hypopigmentation, familial progressive MONDO:0007771" Abnormality of skin pigmentation;HP:0001000 19375057;21368769;35543077 False 3 50;50;0 1.5 True Other ENSG00000049130 ENSG00000049130 HGNC:6343 KRT14 gene KRT14 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted dermatopathia pigmentosa reticularis MONDO:0007445 Abnormality of skin pigmentation;HP:0001000 16960809;18049449 False 3 100;0;0 1.5 True ENSG00000186847 ENSG00000186847 HGNC:6416 KRT5 gene KRT5 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dowling-Degos disease MONDO:0008371 Abnormality of skin pigmentation;HP:0001000 16465624 False 3 100;0;0 1.5 True ENSG00000186081 ENSG00000186081 HGNC:6442 MITF gene MITF Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Waardenburg syndrome type 2A MONDO:0008671 Abnormality of skin pigmentation;HP:0001000 7874167;23512835;27759048;28356565 False 3 100;0;0 1.5 True ENSG00000187098 ENSG00000187098 HGNC:7105 NHP2 gene NHP2 Expert Review Green;Literature;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal dyskeratosis congenita, autosomal recessive 2 MONDO:0013519 Abnormality of skin pigmentation;HP:0001000 18523010;31985013 False 3 100;0;0 1.5 True ENSG00000145912 ENSG00000145912 HGNC:14377 OSMR gene OSMR Expert Review Green;Other Hereditary Pigmentary Disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted primary cutaneous amyloidosis MONDO:0015301 Abnormality of skin pigmentation;HP:0001000 19375894;19528426;25054142;20507362;19690585 False 3 100;0;0 1.5 True ENSG00000145623 ENSG00000145623 HGNC:8507 PARN gene PARN Expert Review Green;Literature;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 MONDO:0014612 Abnormality of skin pigmentation;HP:0001000 30525901;25893599;25848748;31448843 False 3 100;0;0 1.5 True ENSG00000140694 ENSG00000140694 HGNC:8609 PAX3 gene PAX3 Expert list;Expert Review Green Hereditary Pigmentary Disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Waardenburg syndrome MONDO:0018094 Abnormality of skin pigmentation;HP:0001000 27759048;7897628;28690861;30314436;25932447 False 3 100;0;0 1.5 True ENSG00000135903 ENSG00000135903 HGNC:8617 POFUT1 gene POFUT1 Expert list;Expert Review Green Hereditary Pigmentary Disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Dowling-Degos disease MONDO:0008371" Abnormality of skin pigmentation;HP:0001000 23684010;29452367;25157627 False 3 100;0;0 1.5 True ENSG00000101346 ENSG00000101346 HGNC:14988 POGLUT1 gene POGLUT1 Expert list;Expert Review Green Hereditary Pigmentary Disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dowling-Degos disease MONDO:0008371 Abnormality of skin pigmentation;HP:0001000 24387993 False 3 100;0;0 1.5 True ENSG00000163389 ENSG00000163389 HGNC:22954 POLH gene POLH Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum variant type MONDO:0010214 Abnormality of skin pigmentation;HP:0001000 10385124;10398605 False 3 100;0;0 1.5 True ENSG00000170734 ENSG00000170734 HGNC:9181 PRKAR1A gene PRKAR1A Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Carney complex, type 1 MONDO:0008057" Abnormality of skin pigmentation;HP:0001000 10973256;11115848;12424709;21651393 False 3 100;0;0 1.5 True ENSG00000108946 ENSG00000108946 HGNC:9388 PSENEN gene PSENEN Expert list;Expert Review Green Hereditary Pigmentary Disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dowling-Degos disease MONDO:0008371 Abnormality of skin pigmentation;HP:0001000 20929727;21412258;27900998 False 3 100;0;0 1.5 True ENSG00000205155 ENSG00000205155 HGNC:30100 RPA1 gene RPA1 Expert Review Green;Literature Hereditary Pigmentary Disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 MONDO:0030690 Abnormality of skin pigmentation;HP:0001000 34767620 False 3 100;0;0 1.5 True ENSG00000132383 ENSG00000132383 HGNC:10289 RTEL1 gene RTEL1 Expert Review Green;Literature;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal dyskeratosis congenita MONDO:0015780 Abnormality of skin pigmentation;HP:0001000 20301779;23329068;15210109;23453664;19461895;25848748;25607374 False 3 100;0;0 1.5 True ENSG00000258366 ENSG00000258366 HGNC:15888 SASH1 gene SASH1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted dyschromatosis universalis hereditaria 1 MONDO:0024524 Abnormality of skin pigmentation;HP:0001000 23333244;27885802;32981204 False 3 50;50;0 1.5 True ENSG00000111961 ENSG00000111961 HGNC:19182 SOX10 gene SOX10 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Waardenburg syndrome type 4C MONDO:0013202 Abnormality of skin pigmentation;HP:0001000 9462749;18348274;27863645;24735604;27240497;24311220 False 3 100;0;0 1.5 True ENSG00000100146 ENSG00000100146 HGNC:11190 TERC gene TERC Expert Review Green;Literature;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, autosomal dominant 1 MONDO:0007485 Abnormality of skin pigmentation;HP:0001000 11574891 False 3 100;0;0 1.5 True ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Dyskeratosis congenita MONDO:0015780 Abnormality of skin pigmentation;HP:0001000 16247010;15814878 False 3 100;0;0 1.5 True ENSG00000164362 ENSG00000164362 HGNC:11730 TINF2 gene TINF2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, autosomal dominant 3 MONDO:0013522 Abnormality of skin pigmentation;HP:0001000 18252230;21477109;18979121;18669893;21199492;33097095 False 3 50;50;0 1.5 True ENSG00000092330 ENSG00000092330 HGNC:11824 WRAP53 gene WRAP53 Expert Review Green;Literature;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita MONDO:0015780 Abnormality of skin pigmentation;HP:0001000 21205863;32303682;29514627 False 3 100;0;0 1.5 True ENSG00000141499 ENSG00000141499 HGNC:25522 XPA gene XPA Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal xeroderma pigmentosum group A MONDO:0010210 Abnormality of skin pigmentation;HP:0001000 2234061;1372102 False 3 100;0;0 1.5 True ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC Expert list;Expert Review Green;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal xeroderma pigmentosum group C MONDO:0010211 Abnormality of skin pigmentation;HP:0001000 10447254 False 3 100;0;0 1.5 True ENSG00000154767 ENSG00000154767 HGNC:12816 NOP10 gene NOP10 Expert Review Amber;Literature;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal dyskeratosis congenita, autosomal recessive 1 MONDO:0009136 Abnormality of skin pigmentation;HP:0001000 17507419;32554502;32139460 False 2 0;100;0 1.5 True ENSG00000182117 ENSG00000182117 HGNC:14378 SNAI2 gene SNAI2 Expert list;Expert Review Amber;Victorian Clinical Genetics Services Hereditary Pigmentary Disorders Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal piebaldism MONDO:0008244;Waardenburg syndrome type 2D MONDO:0012144 Abnormality of skin pigmentation;HP:0001000 12444107;30936914;12955764;24443330 False 2 0;100;0 1.5 True ENSG00000019549 ENSG00000019549 HGNC:11094