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 ANAPC1 gene ANAPC1 Expert Review Green;Literature Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368 31303264 False 3 100;0;0 4.27 False ENSG00000153107 ENSG00000153107 HGNC:19988 APCDD1 gene APCDD1 Expert Review Green Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotrichosis 1;non-syndromic hereditary hypotrichosis;Hypotrichosis 1, 605389;Hypotrichosis simplex (HS);Hereditary hypotrichosis simplex (HHS) 20393562;22512811 False 3 100;0;0 4.27 False ENSG00000154856 ENSG00000154856 HGNC:15718 AXIN2 gene AXIN2 Expert Review Green;Other Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oligodontia-colorectal cancer syndrome, OMIM:608615 15042511;21626677;30671715;32807118;21416598;34637023 False 3 100;0;0 4.27 False ENSG00000168646 ENSG00000168646 HGNC:904 C3orf52 gene C3orf52 Expert Review Green;Literature Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Hypotrichosis 15, OMIM:620177 32336749 False 3 0;100;0 4.27 False ENSG00000114529 ENSG00000114529 HGNC:26255 CDH3 gene CDH3 Expert Review Green Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Hypotrichosis, congenital, with juvenile macular dystrophy, 601553;Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 22140374 False 3 100;0;0 4.27 False ENSG00000062038 ENSG00000062038 HGNC:1762 CDSN gene CDSN Expert Review Green Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotrichosis 2, OMIM:146520 23746069;12754508;22875505 False 3 100;0;0 4.27 False ENSG00000204539 ENSG00000204539 HGNC:1802 DSG4 gene DSG4 Expert Review Green Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal HYPT6;localized autosomal recessive hypotrichosis-1 (LAH1);Hypotrichosis with broken hairs and follicular hyperkeratosis (variable severity and extent);Autosomal recessive hypotrichosis;Hereditary hypotrichosis simplex (HHS);Localized AR Hypotrichosis;localized autosomal recessive hypotrichosis;Hypotrichosis 6, 607903;Hypotrichosis simplex (HS) 15304105 False 3 100;0;0 4.27 False ENSG00000175065 ENSG00000175065 HGNC:21307 EDA gene EDA Expert Review Green Ectodermal dysplasia Dermatology X-LINKED: hemizygous mutation in males, biallelic mutations in females Ectodermal dysplasia 1 hypohidrotic X-linked;Tooth agenesis, selective, X-linked 1, 313500;Hypohidrotic Ectodermal Dysplasia;Ectodermal Dysplasia 1, Hypohidrotic, X-Linked;Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 False 3 100;0;0 4.27 False ENSG00000158813 ENSG00000158813 HGNC:3157 EDAR gene EDAR Expert Review Green Ectodermal dysplasia Dermatology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypohidrotic Ectodermal Dysplasia, Dominant;[Hair morphology 1, hair thickness], 612630;Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia;[Hair morphology 1, hair thickness], 612630 -3;Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 False 3 100;0;0 4.27 False ENSG00000135960 ENSG00000135960 HGNC:2895 EDARADD gene EDARADD Expert Review Green Ectodermal dysplasia Dermatology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypohidrotic Ectodermal Dysplasia, Recessive;Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia;Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940;Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941;Hypohidrotic ectodermal dysplasia;Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, 614940 20477971;21626677;26440664;22013926 (rat model);26991760;20222921;25206167 (review) False 3 100;0;0 4.27 False ENSG00000186197 ENSG00000186197 HGNC:14341 FOSL2 gene FOSL2 Expert Review Green;Literature;NHS GMS Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aplasia cutis-enamel dysplasia syndrome, OMIM:620789 36197437 False 3 100;0;0 4.27 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000075426 ENSG00000075426 HGNC:3798 GJB6 gene GJB6 Expert Review Green Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ectodermal dysplasia 2, Clouston type, 129500;Clouston syndrome;Hidrotic Ectodermal Dysplasia 11017065;23981984;25575739;25808784;27137747 False 3 100;0;0 4.27 False ENSG00000121742 ENSG00000121742 HGNC:4288 GRHL2 gene GRHL2 Expert Review Green;NHS GMS Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia/short stature syndrome, OMIM:616029 25152456;27612988 False 3 50;50;0 4.27 False ENSG00000083307 ENSG00000083307 HGNC:2799 HOXC13 gene HOXC13 Expert Review Green Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia 9, hair/nail type, 614931 False 3 100;0;0 4.27 False ENSG00000123364 ENSG00000123364 HGNC:5125 HR gene HR Expert Review Green;NHS GMS Ectodermal dysplasia Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Marie Unna hereditary hypotrichosis (MUHH);Alopecia universalis, OMIM:203655;Atrichia with papular lesions, OMIM:209500 26269244;24261346;10205263;10469319;12271294 False 3 100;0;0 4.27 False Other - please provide details in the comments ENSG00000168453 ENSG00000168453 HGNC:5172 IKBKG gene IKBKG Expert Review Green Ectodermal dysplasia Dermatology X-LINKED: hemizygous mutation in males, biallelic mutations in females Ectodermal dysplasia and immunodeficiency 1, OMIM:300291 False 3 100;0;0 4.27 False ENSG00000073009 ENSG00000269335 HGNC:5961 KRT14 gene KRT14 Expert Review Green Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Naegeli-Franceschetti-Jadassohn syndrome 161000 16960809 False 3 100;0;0 4.27 False ENSG00000186847 ENSG00000186847 HGNC:6416 KRT25 gene KRT25 Expert Review Green Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Woolly hair, autosomal recessive 3, 616760 26902920;26160856 False 3 100;0;0 4.27 False ENSG00000204897 ENSG00000204897 HGNC:30839 KRT74 gene KRT74 Expert Review Green Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Woolly hair, autosomal dominant, OMIM:194300 (AD);?Hypotrichosis 3, OMIM:613981 (AD);?Ectodermal dysplasia 7, hair/nail type, OMIM:614929 (AR) 21188418;24714551 False 3 100;0;0 4.27 False ENSG00000170484 ENSG00000170484 HGNC:28929 KRT81 gene KRT81 Expert Review Green;NHS GMS Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Monilethrix, OMIM:158000 9665406;9402962;10504448;14714571;25557232 False 3 33;67;0 4.27 False ENSG00000205426 ENSG00000205426 HGNC:6458 KRT85 gene KRT85 Expert Review Green Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia, pure hair and nail type;Ectodermal dysplasia 4, hair/nail type, 602032 19865094 (2 different homozygous variants reported in two consanguineous Pakistani families - one variant was the same as identified in PMID:16525032).;16525032 (a homozygous variant identified in a large kindred of Pakistani origin) False 3 100;0;0 4.27 False ENSG00000135443 ENSG00000135443 HGNC:6462 KRT86 gene KRT86 Expert Review Green;NHS GMS Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Monilethrix, OMIM:158000 10469314;10594761;10504448;12653715;10878478;25557232;23554671 False 3 100;0;0 4.27 False ENSG00000170442 ENSG00000170442 HGNC:6463 LEF1 gene LEF1 Expert Review Green;Literature;NHS GMS Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ectodermal dysplasia 17 with or without limb malformations, OMIM:621224;ectodermal dysplasia 17 with or without limb malformations, MONDO:0979228 32022899;35583550 False 3 75;0;25 4.27 False ENSG00000138795 ENSG00000138795 HGNC:6551 LIPH gene LIPH Expert Review Green Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Hypotrichosis 7, 604379;HYPT7;localized autosomal recessive hypotrichosis-2 (LAH2);Autosomal recessive hypotrichosis;Hereditary hypotrichosis simplex (HHS);Hypotrichosis simplex (HS);Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 False 3 100;0;0 4.27 False ENSG00000163898 ENSG00000163898 HGNC:18483 LPAR6 gene LPAR6 Expert Review Green Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Hypotrichosis 8;Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150;HYPT8;localized autosomal recessive hypotrichosis-3 (LAH3);Autosomal recessive hypotrichosis;Hereditary hypotrichosis simplex (HHS);Hypotrichosis simplex (HS);Hypotrichosis 8, 278150 21426374;21070332;18461368 False 3 100;0;0 4.27 False ENSG00000139679 ENSG00000139679 HGNC:15520 LRP6 gene LRP6 Expert Review Green;Literature;NHS GMS Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tooth agenesis, selective, 7, OMIM:616724 26387593;26963285 False 3 100;0;0 4.27 False ENSG00000070018 ENSG00000070018 HGNC:6698 MBTPS2 gene MBTPS2 Expert Review Green Ectodermal dysplasia Dermatology X-LINKED: hemizygous mutation in males, biallelic mutations in females scarring alopecia;KFSDX;Keratosis follicularis spinulosa decalvans, X-linked, 208800 (includes progressive cicatricial alopecia of the scalp) 22816986;20672378;23316014 False 3 100;0;0 4.27 False ENSG00000012174 ENSG00000012174 HGNC:15455 MSX1 gene MSX1 Expert Review Green Ectodermal dysplasia Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ectodermal dysplasia 3, Witkop type, OMIM:189500;Tooth agenesis, selective, 1, with or without orofacial cleft, OMIM:106600 11369996;16932841;24031111;25565750 False 3 100;0;0 4.27 False ENSG00000163132 ENSG00000163132 HGNC:7391 NECTIN1 gene NECTIN1 Expert Review Green Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Cleft lip/palate-ectodermal dysplasia syndrome, 225060;Orofacial cleft 7, 225060 0932188;11559849 False 3 100;0;0 4.27 False ENSG00000110400 ENSG00000110400 HGNC:9706 NECTIN4 gene NECTIN4 Expert Review Green Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia-syndactyly syndrome 1, OMIM:613573;ectodermal dysplasia-syndactyly syndrome 1, MONDO:0024565 20691405;21346770;34067522;37183149;37829154 False 3 100;0;0 4.27 False ENSG00000143217 ENSG00000143217 HGNC:19688 NFKB2 gene NFKB2 Expert Review Green Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 10 615577 False 3 100;0;0 4.27 False ENSG00000077150 ENSG00000077150 HGNC:7795 NFKBIA gene NFKBIA Expert Review Green Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132 17931563;23864385;18412279;15337789;23239958 False 3 100;0;0 4.27 False ENSG00000100906 ENSG00000100906 HGNC:7797 PKP1 gene PKP1 Expert Review Green Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia/skin fragility syndrome, 604536;Ectodermal Dysplasia/Skin Fragility Syndrome 25565931;22309335;24073657 False 3 100;0;0 4.27 False ENSG00000081277 ENSG00000081277 HGNC:9023 PORCN gene PORCN Expert Review Green Ectodermal dysplasia 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 305600 17546031;19309688;8325042;17546030 False 3 100;0;0 4.27 False ENSG00000102312 ENSG00000102312 HGNC:17652 PPP1R13L gene PPP1R13L Expert Review Green;Literature;NHS GMS Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519 28069640;32666529;35924320 False 3 100;0;0 4.27 False ENSG00000104881 ENSG00000104881 HGNC:18838 PRKD1 gene PRKD1 Expert Review Green;Literature Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart defects and ectodermal dysplasia, 617364 27479907;32817298 False 3 100;0;0 4.27 False ENSG00000184304 ENSG00000184304 HGNC:9407 RIPK4 gene RIPK4 Expert Review Green;Literature;NHS GMS Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal CHAND syndrome, OMIM:214350;Popliteal pterygium syndrome, Bartsocas-Papas type 1, OMIM:263650;ectodermal dysplasia syndrome, MONDO:0019287 26129644;28940926;33713555;35220430 False 3 100;0;0 4.27 False ENSG00000183421 ENSG00000183421 HGNC:496 RMRP gene RMRP Expert Review Green Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Cartilage-hair hypoplasia 250250 False 3 100;0;0 4.27 False ENSG00000269900 ENSG00000269900 HGNC:10031 RSPO4 gene RSPO4 Expert Review Green Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal 17914448;18070203 False 3 100;0;0 4.27 False ENSG00000101282 ENSG00000101282 HGNC:16175 SNRPE gene SNRPE Expert Review Green Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotrichosis 11, OMIM:615059 9621144;23246290;33792916 False 3 50;50;0 4.27 False ENSG00000182004 ENSG00000182004 HGNC:11161 SREBF1 gene SREBF1 Expert Review Green;Literature;NHS GMS Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ichthyosis, follicular, with atrichia and photophobia syndrome 2, MIM# 619016, MONDO:0100221;Mucoepithelial dysplasia, hereditary, MIM# 158310, MONDO:0008017 31790666;32497488;32902915;33253727;33742461 False 3 100;0;0 4.27 False ENSG00000072310 ENSG00000072310 HGNC:11289 ST14 gene ST14 Expert Review Green Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 11 OMIM:602400;Some affected persons exhibit scarring alopecia 18843291;29611532;17273967;18445049 False 3 100;0;0 4.27 False ENSG00000149418 ENSG00000149418 HGNC:11344 TP63 gene TP63 Expert Review Green Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ADULT syndrome, OMIM:103285;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292;Hay-Wells syndrome, OMIM:106260;Limb-mammary syndrome, OMIM:603543;Rapp-Hodgkin syndrome, OMIM:129400;Split-hand/foot malformation 4, OMIM:605289 False 3 100;0;0 4.27 False ENSG00000073282 ENSG00000073282 HGNC:15979 TSPEAR gene TSPEAR Expert list;Expert Review Green Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180 27736875 False 3 100;0;0 4.27 False ENSG00000175894 ENSG00000175894 HGNC:1268 TWIST2 gene TWIST2 Expert Review;Expert Review Green;NHS GMS Ectodermal dysplasia Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ablepharon-macrostomia syndrome, OMIM:200110 (AD);Barber-Say syndrome, OMIM:209885 (AD);Focal facial dermal dysplasia 3, Setleis type, OMIM:227260 (AR) False 3 100;0;0 4.27 False ENSG00000233608 ENSG00000233608 HGNC:20670 WNT10A gene WNT10A Expert Review Green Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Schopf-Schulz-Passarge syndrome, OMIM:224750;Odontoonychodermal dysplasia, OMIM:257980 False 3 100;0;0 4.27 False ENSG00000135925 ENSG00000135925 HGNC:13829 GJB2 gene GJB2 Expert Review Amber Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hystrix-like ichthyosis with deafness, 602540;clouston syndrome;Scarring alopecia;HID syndrome 2681028;25575739;25808784;15757815 False 2 0;0;0 4.27 False ENSG00000165474 ENSG00000165474 HGNC:4284 HLA-DRA gene HLA-DRA Expert Review Amber Ectodermal dysplasia Dermatology Unknown lichen planopilaris;progressive cicatricial (scarring) alopecia;Graham Little syndrome;Graham Little-Piccardi-Lassueur syndrome False 2 0;100;0 4.27 False ENSG00000204287 ENSG00000204287 HGNC:4947 KDF1 gene KDF1 Expert Review Amber;Literature Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, OMIM:617337;ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, MONDO:0015024 27838789;24075906;30384154;30977908;36293320;37144643;38501196;40554824 False 2 100;0;0 4.27 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000175707 ENSG00000175707 HGNC:26624 KREMEN1 gene KREMEN1 Expert Review Amber Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia 13, hair/tooth type, 617392 27049303;29526031 False 2 0;100;0 4.27 False ENSG00000183762 ENSG00000183762 HGNC:17550 KRT71 gene KRT71 Expert Review Amber Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown hypotrichosis;?Hypotrichosis 13, 615896;HYPT13;woolly hair 22592156 False 2 0;50;50 4.27 False ENSG00000139648 ENSG00000139648 HGNC:28927 KRT83 gene KRT83 Expert Review Amber Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Monilethrix, OMIM:158000 27965375;25557232 False 2 0;100;0 4.27 False ENSG00000170523 ENSG00000170523 HGNC:6460 LSS gene LSS Expert Review Amber;Literature Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Alopecia-intellectual disability syndrome 4, OMIM:618840;alopecia-intellectual disability syndrome 4, MONDO:0030009;Hypotrichosis 14, OMIM:618275;hypotrichosis 14, MONDO:0032649 32101538;30401459;30723320;29016354 False 2 100;0;0 4.27 False ENSG00000160285 ENSG00000160285 HGNC:6708 SDR9C7 gene SDR9C7 Expert Review Amber Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal autosomal recessive congenital ichthyosis (ARCI) type 7 (includes scarring alopecia) False 2 0;100;0 4.27 False ENSG00000170426 ENSG00000170426 HGNC:29958 TUFT1 gene TUFT1 Expert Review Amber;Literature Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Woolly hair-skin fragility syndrome, OMIM:620415 36689522;37716648 False 2 50;50;0 4.27 False ENSG00000143367 ENSG00000143367 HGNC:12422 ABCA12 gene ABCA12 Expert Review Red Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Some affected persons exhibit scarring alopecia;Ichthyosis, autosomal recessive 4B (harlequin), 242500;Lamellar ichthyosis;Ichthyosis, congenital, autosomal recessive 4A, 601277 False 1 0;0;0 4.27 False ENSG00000144452 ENSG00000144452 HGNC:14637 AIRE gene AIRE Expert Review Red Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300;autoimmune polyendocrine syndrome type 1, MONDO:0009411 False 1 0;0;100 4.27 False ENSG00000160224 ENSG00000160224 HGNC:360 ALOX12B gene ALOX12B Expert Review Red Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Some affected persons exhibit scarring alopecia;Ichthyosis, congenital, autosomal recessive 2, 242100;Lamellar ichthyosis False 1 0;0;0 4.27 False ENSG00000179477 ENSG00000179477 HGNC:430 ALOXE3 gene ALOXE3 Expert Review Red Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Some affected persons exhibit scarring alopecia;Ichthyosis, congenital, autosomal recessive 3, 606545 False 1 0;0;0 4.27 False ENSG00000179148 ENSG00000179148 HGNC:13743 AR gene AR Expert Review Red Ectodermal dysplasia Dermatology X-LINKED: hemizygous mutation in males, biallelic mutations in females Androgen insensitivity, OMIM:300068;Androgen insensitivity, partial, with or without breast cancer, OMIM:312300;Hypospadias 1, X-linked, OMIM:300633;Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 False 1 0;100;0 4.27 False ENSG00000169083 ENSG00000169083 HGNC:644 C2 gene C2 Expert Review Red Ectodermal dysplasia Dermatology discoid (cutaneous) lupus;discoid lupus erythematosus 6902670 False 1 0;0;0 4.27 False ENSG00000166278 ENSG00000166278 HGNC:1248 C5 gene C5 Expert Review Red Ectodermal dysplasia Dermatology discoid lupus erythematosus 1999552 False 1 0;0;0 4.27 False ENSG00000106804 ENSG00000106804 HGNC:1331 CERS3 gene CERS3 Expert Review Red Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Some affected persons exhibit scarring alopecia;Ichthyosis, congenital, autosomal recessive 9, 615023 False 1 0;0;0 4.27 False ENSG00000154227 ENSG00000154227 HGNC:23752 CLDN1 gene CLDN1 Expert Review Red Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626;scarring alopecia False 1 0;0;0 4.27 False ENSG00000163347 ENSG00000163347 HGNC:2032 CREBBP gene CREBBP Expert Review Red Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rubinstein-Taybi syndrome 1, 180849 False 1 0;100;0 4.27 False ENSG00000005339 ENSG00000005339 HGNC:2348 CYBB gene CYBB Expert Review Red Ectodermal dysplasia Dermatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) CGD;Chronic granulomatous disease, X-linked, 306400;discoid lupus erythematosus False 1 0;0;0 4.27 False ENSG00000165168 ENSG00000165168 HGNC:2578 CYP4F22 gene CYP4F22 Expert Review Red Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Some affected persons exhibit scarring alopecia;Lamellar ichthyosis;Ichthyosis, congenital, autosomal recessive 5, 604777 False 1 0;0;0 4.27 False ENSG00000171954 ENSG00000171954 HGNC:26820 DHX30 gene DHX30 Expert Review Red Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;100;0 4.27 False ENSG00000132153 ENSG00000132153 HGNC:16716 DHX40 gene DHX40 Expert Review Red Ectodermal dysplasia Dermatology Ectodermal dysplasia False 1 0;100;0 4.27 False ENSG00000108406 ENSG00000108406 HGNC:18018 DSC3 gene DSC3 Expert Review Red Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal hypotrichosis and recurrent skin vesicles disorder, 613102;HRSV;?Hypotrichosis and recurrent skin vesicles, 613102 19765682 False 1 0;0;100 4.27 False ENSG00000134762 ENSG00000134762 HGNC:3037 DSP gene DSP Expert Review Red Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Ectodermal Dysplasia/Skin Fragility Syndrome False 1 0;0;100 4.27 False ENSG00000096696 ENSG00000096696 HGNC:3052 IFT122 gene IFT122 Expert Review Red Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 1, 218330;Cranioectodermal Dysplasia False 1 0;0;100 4.27 False ENSG00000163913 ENSG00000163913 HGNC:13556 IFT43 gene IFT43 Expert Review Red Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 3, 614099;Cranioectodermal Dysplasia False 1 0;0;100 4.27 False ENSG00000119650 ENSG00000119650 HGNC:29669 ITGA6 gene ITGA6 Expert Review Red Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Epidermolysis Bullosa with Pyloric Atresia;EB-PA;Epidermolysis bullosa, junctional, with pyloric stenosis, 226730;scarring alopecia 20301336 False 1 0;0;0 4.27 False ENSG00000091409 ENSG00000091409 HGNC:6142 ITGB4 gene ITGB4 Expert Review Red Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Epidermolysis Bullosa with Pyloric Atresia;Epidermolysis bullosa, junctional, with pyloric atresia, 226730;EB-PA;scarring alopecia 20301336 False 1 0;0;0 4.27 False ENSG00000132470 ENSG00000132470 HGNC:6158 LIPN gene LIPN Expert Review Red Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Some affected persons exhibit scarring alopecia;Lamellar ichthyosis;Ichthyosis, congenital, autosomal recessive 8, 613943 False 1 0;0;0 4.27 False ENSG00000204020 ENSG00000204020 HGNC:23452 NIPAL4 gene NIPAL4 Expert Review Red Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Some affected persons exhibit scarring alopecia;Lamellar ichthyosis;Ichthyosis, congenital, autosomal recessive 6, 612281 False 1 0;0;0 4.27 False ENSG00000172548 ENSG00000172548 HGNC:28018 PLEC gene PLEC Expert Review Red Ectodermal dysplasia Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive , OMIM:616487;Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950;Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670;Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138 20301336 False 1 0;0;0 4.27 False ENSG00000178209 ENSG00000178209 HGNC:9069 PNPLA1 gene PNPLA1 Expert Review Red Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 10, 615024;Some affected persons exhibit scarring alopecia False 1 0;0;0 4.27 False ENSG00000180316 ENSG00000180316 HGNC:21246 PPARG gene PPARG Expert Review Red Ectodermal dysplasia Dermatology Unknown lichen planopilaris;LPP;PCA;primary cicatricial alopecia;scarring alopecia 19369934;19052558 False 1 0;0;0 4.27 False ENSG00000132170 ENSG00000132170 HGNC:9236 PSMB10 gene PSMB10 Expert Review Red;Literature Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 121 with autoinflammation, OMIM:620807 31783057;36250618;37600812;38503300;39734035 False 1 0;0;100 4.27 False ENSG00000205220 ENSG00000205220 HGNC:9538 RPL21 gene RPL21 Expert Review Red Ectodermal dysplasia Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HYPT12;Hypotrichosis 12, 615885;Hypotrichosis simplex (HS);Hereditary hypotrichosis simplex (HHS) 21412954 False 1 0;0;100 4.27 False ENSG00000122026 ENSG00000122026 HGNC:10313 TGM1 gene TGM1 Expert Review Red Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Some affected persons exhibit scarring alopecia;Lamellar ichthyosis;Ichthyosis, congenital, autosomal recessive 1, 242300 False 1 0;0;0 4.27 False ENSG00000092295 ENSG00000092295 HGNC:11777 TSPYL2 gene TSPYL2 Expert Review Red Ectodermal dysplasia Dermatology Unknown discoid lupus erythematosus False 1 0;0;0 4.27 False ENSG00000184205 ENSG00000184205 HGNC:24358 WDR19 gene WDR19 Expert Review Red Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 4, 614378;Cranioectodermal Dysplasia;Asphyxiating thoracic dystrophy 5, 614376;Nephronophthisis 13, 614377 False 1 0;0;100 4.27 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR35 gene WDR35 Expert Review Red Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Short rib-polydactyly syndrome, type V, 614091;Cranioectodermal dysplasia 2, 613610;Cranioectodermal Dysplasia False 1 0;0;100 4.27 False ENSG00000118965 ENSG00000118965 HGNC:29250 WNT7A gene WNT7A Expert Review Red Ectodermal dysplasia Dermatology BIALLELIC, autosomal or pseudoautosomal Fuhrmann syndrome, 228930 False 1 0;100;0 4.27 False ENSG00000154764 ENSG00000154764 HGNC:12786