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 ANTXR1 gene ANTXR1 Expert Review;Expert Review Green Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal GAPO syndrome, MIM# 230740 Abnormal hair morphology;HP:0001595 23602711;25045128;31425299;30575274;29436111;28870703 False 3 100;0;0 0.83 True ENSG00000169604 ENSG00000169604 HGNC:21014 APCDD1 gene APCDD1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Hair disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotrichosis 1, 605389 Abnormal hair morphology;HP:0001595 False 3 50;50;0 0.83 False ENSG00000154856 ENSG00000154856 HGNC:15718 ASL gene ASL Expert list;Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Argininosuccinic aciduria MIM#207900;Urea cycle disorders and inherited hyperammonaemias;disorder of amino acid metabolism Abnormal hair morphology;HP:0001595 31332722;2263616;12384776 False 3 100;0;0 0.83 True ENSG00000126522 ENSG00000126522 HGNC:746 ATP7A gene ATP7A Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Hair disorders Dermatological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease, 309400 Abnormal hair morphology;HP:0001595 21221114;31332722;20170900;33137485;31969342;31558336;7842019;8981948 False 3 100;0;0 0.83 True ENSG00000165240 ENSG00000165240 HGNC:869 BCS1L gene BCS1L Expert Review Green;Literature;Royal Melbourne Hospital;Victorian Clinical Genetics Services Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Bjornstad syndrome, 262000 Abnormal hair morphology;HP:0001595 31332722 False 3 100;0;0 0.83 True ENSG00000074582 ENSG00000074582 HGNC:1020 CDH3 gene CDH3 Expert Review Green;Literature;Victorian Clinical Genetics Services Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 Abnormal hair morphology;HP:0001595 31332722 False 3 100;0;0 0.83 False ENSG00000062038 ENSG00000062038 HGNC:1762 CDSN gene CDSN Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Hair disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotrichosis 2, 146520 Abnormal hair morphology;HP:0001595 31332722 False 3 100;0;0 0.83 False ENSG00000204539 ENSG00000204539 HGNC:1802 DSG4 gene DSG4 Expert Review Green;NHS GMS Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Hypotrichosis 6, 607903 Abnormal hair morphology;HP:0001595 False 3 100;0;0 0.83 False ENSG00000175065 ENSG00000175065 HGNC:21307 DSP gene DSP Expert Review Green;Literature Hair disorders Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Skin fragility-woolly hair syndrome, 607655;Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 Abnormal hair morphology;HP:0001595 31332722 False 3 0;0;0 0.83 False ENSG00000096696 ENSG00000096696 HGNC:3052 EDA gene EDA Expert Review Green;Literature Hair disorders Dermatological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ectodermal dysplasia, hypohidrotic, Tooth agenesis, selective Abnormal hair morphology;HP:0001595 31332722 False 3 100;0;0 0.83 False ENSG00000158813 ENSG00000158813 HGNC:3157 EDAR gene EDAR Expert Review Green;Literature Hair disorders Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ectodermal dysplasia, anhidrotic, Hair morphology Abnormal hair morphology;HP:0001595 31332722 False 3 100;0;0 0.83 False ENSG00000135960 ENSG00000135960 HGNC:2895 EDARADD gene EDARADD Expert Review Green;Literature Hair disorders Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ectodermal dysplasia, hypohidrotic;Ectodermal dysplasia, anhidrotic Abnormal hair morphology;HP:0001595 31332722 False 3 100;0;0 0.83 False ENSG00000186197 ENSG00000186197 HGNC:14341 ERCC2 gene ERCC2 Expert Review Green;Literature;Victorian Clinical Genetics Services Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 1, photosensitive, 601675 Abnormal hair morphology;HP:0001595 31332722 False 3 100;0;0 0.83 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert Review Green;Literature;Victorian Clinical Genetics Services Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 2, photosensitive, 616390 Abnormal hair morphology;HP:0001595 31332722 False 3 100;0;0 0.83 False ENSG00000163161 ENSG00000163161 HGNC:3435 FAM111B gene FAM111B Expert Review Green;Literature;Victorian Clinical Genetics Services Hair disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310 Abnormal hair morphology;HP:0001595 24268661;26471370;26495788;27406236 False 3 100;0;0 0.83 True Other ENSG00000189057 ENSG00000189057 HGNC:24200 FAM83G gene FAM83G Expert list;Expert Review Green Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related Abnormal hair morphology;HP:0001595 41384122;39449644;39043225;29138053 False 3 100;0;0 0.83 False ENSG00000188522 ENSG00000188522 HGNC:32554 GJB6 gene GJB6 Expert Review Green;Literature;Victorian Clinical Genetics Services Hair disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ectodermal dysplasia 2, Clouston type, 129500 Abnormal hair morphology;HP:0001595 31332722 False 3 100;0;0 0.83 False ENSG00000121742 ENSG00000121742 HGNC:4288 GTF2H5 gene GTF2H5 Expert Review Green;Literature;Victorian Clinical Genetics Services Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 3, photosensitive, 616395 Abnormal hair morphology;HP:0001595 31332722;28833524;15220921;8213812;24986372 False 3 100;0;0 0.83 True ENSG00000272047 ENSG00000272047 HGNC:21157 HOXC13 gene HOXC13 Expert Review Green;Literature Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia 9, hair/nail type MIM#614931 Abnormal hair morphology;HP:0001595 23063621;23315978;29278420 False 3 100;0;0 0.83 True ENSG00000123364 ENSG00000123364 HGNC:5125 HR gene HR Expert Review Green;NHS GMS Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Alopecia universalis MIM#203655;Atrichia with papular lesions MIM#209500 Abnormal hair morphology;HP:0001595 31332722 False 3 100;0;0 0.83 True ENSG00000168453 ENSG00000168453 HGNC:5172 HRURF gene HRURF Expert Review Green;Literature Hair disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Hypotrichosis 4, MIM# 146550" Abnormal hair morphology;HP:0001595 39872230;40433810;37012647;28406533;26269244;24961381 False 3 100;0;0 0.83 True ENSG00000288677 ENSG00000288677 HGNC:55085 JUP gene JUP Expert Review Green;Literature;Victorian Clinical Genetics Services Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Naxos disease, 601214 Abnormal hair morphology;HP:0001595 31332722 False 3 100;0;0 0.83 False ENSG00000173801 ENSG00000173801 HGNC:6207 KRT25 gene KRT25 Expert list;Expert Review Green Hair disorders Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Woolly hair, autosomal recessive 3 MIM#616760 Abnormal hair morphology;HP:0001595 26160856;26902920;29686323;28899683 False 3 100;0;0 0.83 False ENSG00000204897 ENSG00000204897 HGNC:30839 KRT81 gene KRT81 Expert Review Green;Literature Hair disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Monilethrix, MIM# 621169 Abnormal hair morphology;HP:0001595 31332722;9402962;22628999 False 3 100;0;0 0.83 True ENSG00000205426 ENSG00000205426 HGNC:6458 KRT85 gene KRT85 Expert list;Expert Review Green Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia 4, hair/nail type MIM#602032 Abnormal hair morphology;HP:0001595 16525032;19865094;31273852 False 3 100;0;0 0.83 False ENSG00000135443 ENSG00000135443 HGNC:6462 KRT86 gene KRT86 Expert Review Green;Literature Hair disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Monilethrix, MIM# 158000 Abnormal hair morphology;HP:0001595 31332722 False 3 100;0;0 0.83 True ENSG00000170442 ENSG00000170442 HGNC:6463 LIPH gene LIPH Expert Review Green;NHS GMS Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379;Hypotrichosis 7, 604379 Abnormal hair morphology;HP:0001595 31332722 False 3 100;0;0 0.83 False ENSG00000163898 ENSG00000163898 HGNC:18483 LPAR6 gene LPAR6 Expert Review Green;NHS GMS Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150;Hypotrichosis 8, 278150 Abnormal hair morphology;HP:0001595 False 3 100;0;0 0.83 False ENSG00000139679 ENSG00000139679 HGNC:15520 LSS gene LSS Expert Review Green;Literature Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Abnormal hair morphology;HP:0001595 False 3 100;0;0 0.83 True ENSG00000160285 ENSG00000160285 HGNC:6708 MBTPS2 gene MBTPS2 Expert Review Green;Other Hair disorders Dermatological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "IFAP syndrome with or without BRESHECK syndrome MONDO:0100213" Abnormal hair morphology;HP:0001595 21600032 False 3 100;0;0 0.83 True ENSG00000012174 ENSG00000012174 HGNC:15455 MPLKIP gene MPLKIP Expert Review Green;Literature;Victorian Clinical Genetics Services Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 4, nonphotosensitive, 234050 Abnormal hair morphology;HP:0001595 31332722 False 3 100;0;0 0.83 False ENSG00000168303 ENSG00000168303 HGNC:16002 PADI3 gene PADI3 Expert Review Green;Literature Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Uncombable hair syndrome, 191480 Abnormal hair morphology;HP:0001595 31332722 False 3 100;0;0 0.83 False ENSG00000142619 ENSG00000142619 HGNC:18337 RMRP gene RMRP Expert list;Expert Review Green;Victorian Clinical Genetics Services Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Cartilage-hair hypoplasia MIM#250250 Abnormal hair morphology;HP:0001595 16838329;11207361 False 3 100;0;0 0.83 True ENSG00000269900 ENSG00000269900 HGNC:10031 RNF113A gene RNF113A Expert Review Green;Literature;Victorian Clinical Genetics Services Hair disorders Dermatological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Trichothiodystrophy 5, nonphotosensitive, 300953 Abnormal hair morphology;HP:0001595 31332722 False 3 50;50;0 0.83 True ENSG00000125352 ENSG00000125352 HGNC:12974 SKIV2L gene SKIV2L Expert Review;Expert Review Green;Victorian Clinical Genetics Services Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 2, MIM#614602 Abnormal hair morphology;HP:0001595 18982349;18982349;22444670 False 3 67;33;0 0.83 True ENSG00000204351 ENSG00000204351 HGNC:10898 SNRPE gene SNRPE Expert Review Green;NHS GMS Hair disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotrichosis 11 MIM#615059 Abnormal hair morphology;HP:0001595 23246290 False 3 50;50;0 0.83 True ENSG00000182004 ENSG00000182004 HGNC:11161 SPINK5 gene SPINK5 Expert list;Expert Review Green;Victorian Clinical Genetics Services Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Netherton syndrome, 256500 Abnormal hair morphology;HP:0001595 31332722 False 3 100;0;0 0.83 False ENSG00000133710 ENSG00000133710 HGNC:15464 SREBF1 gene SREBF1 Expert Review;Expert Review Green;Literature Hair disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016;Mucoepithelial dysplasia, hereditary, MIM#158310 Abnormal hair morphology;HP:0001595 32497488;31790666;32902915 False 3 100;0;0 0.83 True ENSG00000072310 ENSG00000072310 HGNC:11289 TP63 gene TP63 Expert Review Green;Literature;Victorian Clinical Genetics Services Hair disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001 Abnormal hair morphology;HP:0001595 31332722;20556892 False 3 100;0;0 0.83 True ENSG00000073282 ENSG00000073282 HGNC:15979 TRPS1 gene TRPS1 Expert Review Green;Literature;Victorian Clinical Genetics Services Hair disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Trichorhinophalangeal syndrome, type III, 190351;Trichorhinophalangeal syndrome, type I, 190350 Abnormal hair morphology;HP:0001595 31332722 False 3 100;0;0 0.83 False ENSG00000104447 ENSG00000104447 HGNC:12340 TSPEAR gene TSPEAR Expert list;Expert Review Green;Victorian Clinical Genetics Services Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal "Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis MIM#618180" Abnormal hair morphology;HP:0001595 27736875 False 3 100;0;0 0.83 True ENSG00000175894 ENSG00000175894 HGNC:1268 TTC37 gene TTC37 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 1, MIM#222470 Abnormal hair morphology;HP:0001595 20176027;17318842 False 3 100;0;0 0.83 True ENSG00000198677 ENSG00000198677 HGNC:23639 WNT10A gene WNT10A Expert Review Green;Literature Hair disorders Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Odontoonychodermal dysplasia Abnormal hair morphology;HP:0001595 31332722 False 3 100;0;0 0.83 False ENSG00000135925 ENSG00000135925 HGNC:13829 ARHGAP36 gene ARHGAP36 Expert Review;Expert Review Amber Hair disorders Dermatological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Bazex-Dupre-Christol syndrome, MIM# 301845" Abnormal hair morphology;HP:0001595 35986704;40015599 False 2 0;100;0 0.83 True Other ENSG00000147256 ENSG00000147256 HGNC:26388 C3orf52 gene C3orf52 Expert Review Amber;Literature Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Hypotrichosis-15, MIM#620177 Abnormal hair morphology;HP:0001595 PMID: 32336749 False 2 0;100;0 0.83 True ENSG00000114529 ENSG00000114529 HGNC:26255 CST6 gene CST6 Expert list;Expert Review Amber Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia 15, hypohidrotic/hair type MIM#618535 Abnormal hair morphology;HP:0001595 30425301;12393798;36371786 False 2 0;100;0 0.83 True ENSG00000175315 ENSG00000175315 HGNC:2478 DSC3 gene DSC3 Expert Review Amber;NHS GMS Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Hypotrichosis and recurrent skin vesicles MIM#613102 Abnormal hair morphology;HP:0001595 19765682;31790667;18682494 False 2 0;100;0 0.83 True ENSG00000134762 ENSG00000134762 HGNC:3037 GTF2E2 gene GTF2E2 Expert Review Amber;Literature Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 6, nonphotosensitive, MIM# 616943;MONDO:0014841 Abnormal hair morphology;HP:0001595 31332722 False 2 0;100;0 0.83 True ENSG00000197265 ENSG00000197265 HGNC:4651 KDF1 gene KDF1 Expert list;Expert Review Amber Hair disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type MIM#617337 Abnormal hair morphology;HP:0001595 27838789;24075906 False 2 0;100;0 0.83 True ENSG00000175707 ENSG00000175707 HGNC:26624 KREMEN1 gene KREMEN1 Expert list;Expert Review Amber Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia 13, hair/tooth type MIM#617392 Abnormal hair morphology;HP:0001595 27049303;27550540 False 2 0;100;0 0.83 True ENSG00000183762 ENSG00000183762 HGNC:17550 KRT71 gene KRT71 Expert Review Amber;Literature Hair disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Hypotrichosis 13, 615896 Abnormal hair morphology;HP:0001595 31332722;14632181;22592156;19713490 False 2 0;100;0 0.83 True ENSG00000139648 ENSG00000139648 HGNC:28927 KRT74 gene KRT74 Expert Review Amber;NHS GMS;Royal Melbourne Hospital Hair disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotrichosis 3 , MIM# 613981;Woolly hair, autosomal dominant, MIM# 194300 Abnormal hair morphology;HP:0001595 21188418;20346438;21188418 False 2 0;100;0 0.83 True ENSG00000170484 ENSG00000170484 HGNC:28929 KRT83 gene KRT83 Expert Review Amber;Literature Hair disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Monilethrix, MIM#621170 Abnormal hair morphology;HP:0001595 31332722;15744029;25557232 False 2 0;100;0 0.83 True ENSG00000170523 ENSG00000170523 HGNC:6460 TARS gene TARS Expert Review Amber;Literature Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 7, nonphotosensitive, 618546 Abnormal hair morphology;HP:0001595 31332722;31374204 False 2 0;100;0 0.83 True ENSG00000113407 ENSG00000113407 HGNC:11572 TGM3 gene TGM3 Expert Review Amber;Literature Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal ?Uncombable hair syndrome 2, 617251 Abnormal hair morphology;HP:0001595 31332722 False 2 0;100;0 0.83 True ENSG00000125780 ENSG00000125780 HGNC:11779 ADAM17 gene ADAM17 Expert Review Red;Literature Hair disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Hypotrichosis 16, MIM# 621490" Abnormal hair morphology;HP:0001595 38771644 False 1 0;0;100 0.83 True ENSG00000151694 ENSG00000151694 HGNC:195 HEPHL1 gene HEPHL1 Expert Review Red;Literature Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Abnormal hair, joint laxity, and developmental delay (MIM#261990) Abnormal hair morphology;HP:0001595 PMID: 31125343;31293895 False 1 0;0;100 0.83 True ENSG00000181333 ENSG00000181333 HGNC:30477 KRT32 gene KRT32 Expert Review Red;Literature Hair disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted loose anagen syndrome MONDO:0010908 Abnormal hair morphology;HP:0001595 40814173 False 1 0;0;100 0.83 True ENSG00000108759 ENSG00000108759 HGNC:6449 RPL21 gene RPL21 Expert Review Red;NHS GMS Hair disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotrichosis 12 MIM#615885 Abnormal hair morphology;HP:0001595 21412954 False 1 0;0;100 0.83 True ENSG00000122026 ENSG00000122026 HGNC:10313 TCHH gene TCHH Expert Review Red;Literature Hair disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal ?Uncombable hair syndrome 3, 617252 Abnormal hair morphology;HP:0001595 31332722 False 1 0;0;100 0.83 True ENSG00000159450 ENSG00000159450 HGNC:11791