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 without a known gene mutation Ectodermal dysplasias Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368 31303264 False 3 100;0;0 1.30 False ENSG00000153107 ENSG00000153107 HGNC:19988 CDH3 gene CDH3 Expert Review Green;Radboud University Medical Center, Nijmegen Ectodermal dysplasia without a known gene mutation Ectodermal dysplasias Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Hypotrichosis, congenital, with juvenile macular dystrophy, 601553;Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280; Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 22140374 False 3 100;0;0 1.30 False ENSG00000062038 ENSG00000062038 HGNC:1762 EDA gene EDA Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Ectodermal dysplasia without a known gene mutation Ectodermal dysplasias Dermatological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100; Tooth agenesis, selective, X-linked 1, 313500;Ectodermal dysplasia 1 hypohidrotic X-linked;Hypohidrotic Ectodermal Dysplasia;Ectodermal Dysplasia 1, Hypohidrotic, X-Linked False 3 100;0;0 1.30 False ENSG00000158813 ENSG00000158813 HGNC:3157 EDAR gene EDAR Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ectodermal dysplasia without a known gene mutation Ectodermal dysplasias Dermatological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900; [Hair morphology 1, hair thickness], 612630; [Hair morphology 1, hair thickness], 612630 -3;Hypohidrotic Ectodermal Dysplasia, Dominant;Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia False 3 100;0;0 1.30 False ENSG00000135960 ENSG00000135960 HGNC:2895 EDARADD gene EDARADD Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ectodermal dysplasia without a known gene mutation Ectodermal dysplasias Dermatological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypohidrotic ectodermal dysplasia;Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940;Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941;Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941;Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, 614940;Hypohidrotic Ectodermal Dysplasia, Recessive;Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia 26991760;26440664;25206167 (review);22013926 (rat model);21626677;20477971;20222921 False 3 100;0;0 1.30 False ENSG00000186197 ENSG00000186197 HGNC:14341 GJB6 gene GJB6 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ectodermal dysplasia without a known gene mutation Ectodermal dysplasias Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Clouston syndrome;Ectodermal dysplasia 2, Clouston type, 129500;Hidrotic Ectodermal Dysplasia 11017065;27137747;25808784;25575739;23981984 False 3 100;0;0 1.30 False ENSG00000121742 ENSG00000121742 HGNC:4288 HOXC13 gene HOXC13 Expert Review Green;Radboud University Medical Center, Nijmegen Ectodermal dysplasia without a known gene mutation Ectodermal dysplasias Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia 9, hair/nail type, 614931 False 3 100;0;0 1.30 False ENSG00000123364 ENSG00000123364 HGNC:5125 IKBKG gene IKBKG Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Ectodermal dysplasia without a known gene mutation Ectodermal dysplasias Dermatological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ectodermal dysplasia and immunodeficiency 1, OMIM:300291 False 3 100;0;0 1.30 False ENSG00000073009 ENSG00000269335 HGNC:5961 KRT14 gene KRT14 Expert Review;Expert Review Green Ectodermal dysplasia without a known gene mutation Ectodermal dysplasias Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Naegeli-Franceschetti-Jadassohn syndrome 161000" 16960809 False 3 100;0;0 1.30 False ENSG00000186847 ENSG00000186847 HGNC:6416 KRT74 gene KRT74 Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Ectodermal dysplasia without a known gene mutation Ectodermal dysplasias Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Woolly hair, autosomal dominant, OMIM:194300 (AD);?Hypotrichosis 3, OMIM:613981 (AD);?Ectodermal dysplasia 7, hair/nail type, OMIM:614929 (AR) 24714551 False 3 0;0;0 1.30 False ENSG00000170484 ENSG00000170484 HGNC:28929 KRT85 gene KRT85 Expert Review Green;Radboud University Medical Center, Nijmegen Ectodermal dysplasia without a known gene mutation Ectodermal dysplasias Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia 4, hair/nail type, 602032;Ectodermal dysplasia, pure hair and nail type 16525032 (a homozygous variant identified in a large kindred of Pakistani origin);19865094 (2 different homozygous variants reported in two consanguineous Pakistani families - one variant was the same as identified in PMID:16525032). False 3 100;0;0 1.30 False ENSG00000135443 ENSG00000135443 HGNC:6462 MSX1 gene MSX1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Ectodermal dysplasia without a known gene mutation Ectodermal dysplasias Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ectodermal dysplasia 3, Witkop type, OMIM:189500 24031111;11369996 False 3 100;0;0 1.30 False ENSG00000163132 ENSG00000163132 HGNC:7391 NECTIN1 gene NECTIN1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Ectodermal dysplasia without a known gene mutation Ectodermal dysplasias Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Cleft lip/palate-ectodermal dysplasia syndrome, 225060;Orofacial cleft 7, 225060 0932188;11559849 False 3 100;0;0 1.30 False ENSG00000110400 ENSG00000110400 HGNC:9706 NECTIN4 gene NECTIN4 Expert Review Green;Radboud University Medical Center, Nijmegen Ectodermal dysplasia without a known gene mutation Ectodermal dysplasias Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia-syndactyly syndrome 1, OMIM:613573 False 3 100;0;0 1.30 False ENSG00000143217 ENSG00000143217 HGNC:19688 NFKB2 gene NFKB2 Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen Ectodermal dysplasia without a known gene mutation Ectodermal dysplasias Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Immunodeficiency, common variable, 10 615577" False 3 100;0;0 1.30 False ENSG00000077150 ENSG00000077150 HGNC:7795 NFKBIA gene NFKBIA Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Ectodermal dysplasia without a known gene mutation Ectodermal dysplasias Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132 23864385;23239958;15337789;17931563;18412279 False 3 100;0;0 1.30 False ENSG00000100906 ENSG00000100906 HGNC:7797 PKP1 gene PKP1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Ectodermal dysplasia without a known gene mutation Ectodermal dysplasias Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia/skin fragility syndrome, 604536;Ectodermal Dysplasia/Skin Fragility Syndrome 25565931;24073657;22309335 False 3 100;0;0 1.30 False ENSG00000081277 ENSG00000081277 HGNC:9023 PORCN gene PORCN Emory Genetics Laboratory;Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen Ectodermal dysplasia without a known gene mutation Ectodermal dysplasias Dermatological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Focal dermal hypoplasia 305600" 17546031;8325042;17546030;19309688 False 3 100;0;0 1.30 False ENSG00000102312 ENSG00000102312 HGNC:17652 RMRP gene RMRP Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Ectodermal dysplasia without a known gene mutation Ectodermal dysplasias Dermatological disorders BIALLELIC, autosomal or pseudoautosomal "Cartilage-hair hypoplasia 250250" False 3 100;0;0 1.30 False ENSG00000269900 ENSG00000269900 HGNC:10031 TP63 gene TP63 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Ectodermal dysplasia without a known gene mutation Ectodermal dysplasias Dermatological disorders 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 1.30 False ENSG00000073282 ENSG00000073282 HGNC:15979 TSPEAR gene TSPEAR Expert list;Expert Review Green;Literature Ectodermal dysplasia without a known gene mutation Ectodermal dysplasias Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180 27736875 False 3 0;0;0 1.30 False ENSG00000175894 ENSG00000175894 HGNC:1268 WNT10A gene WNT10A Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ectodermal dysplasia without a known gene mutation Ectodermal dysplasias Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Odontoonychodermal dysplasia, OMIM:257980;Schopf-Schulz-Passarge syndrome, OMIM:224750 False 3 100;0;0 1.30 False ENSG00000135925 ENSG00000135925 HGNC:13829