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;NHS GMS Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomson syndrome, type 1 MIM#618625;MONDO:0016368 Ectodermal dysplasia;HP:0000968 31303264 False 3 100;0;0 0.86 True ENSG00000153107 ENSG00000153107 HGNC:19988 ANTXR1 gene ANTXR1 Expert Review;Expert Review Green Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal GAPO syndrome, MIM# 230740 Ectodermal dysplasia;HP:0000968 23602711;25045128;31425299;30575274;29436111;28870703 False 3 100;0;0 0.86 True ENSG00000169604 ENSG00000169604 HGNC:21014 BCS1L gene BCS1L Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Bjornstad syndrome MIM#262000 Ectodermal dysplasia;HP:0000968 24172246;17314340;9545407 False 3 100;0;0 0.86 True ENSG00000074582 ENSG00000074582 HGNC:1020 CDH3 gene CDH3 Expert Review Green;Royal Melbourne Hospital Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280;Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553 Ectodermal dysplasia;HP:0000968 11544476;15805154;28061825;22140374 False 3 100;0;0 0.86 True ENSG00000062038 ENSG00000062038 HGNC:1762 CST6 gene CST6 Expert Review Green;Royal Melbourne Hospital Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia 15, hypohidrotic/hair type, 618535 Ectodermal dysplasia;HP:0000968 30425301;36371786 False 3 50;50;0 0.86 True ENSG00000175315 ENSG00000175315 HGNC:2478 CTNND1 gene CTNND1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ectodermal Dysplasia Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Blepharocheilodontic syndrome 2 MIM#617681 Ectodermal dysplasia;HP:0000968 28301459 False 3 100;0;0 0.86 True ENSG00000198561 ENSG00000198561 HGNC:2515 CTSC gene CTSC Expert Review Green;Other Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Haim-Munk syndrome MIM#245010;Papillon-Lefevre syndrome MIM#245000 Ectodermal dysplasia;HP:0000968 10581027 False 3 100;0;0 0.86 True ENSG00000109861 ENSG00000109861 HGNC:2528 DSP gene DSP Expert Review Green;Royal Melbourne Hospital Ectodermal Dysplasia Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Keratosis palmoplantaris striata II, Epidermolysis bullosa, lethal acantholytic Ectodermal dysplasia;HP:0000968 False 3 0;0;0 0.86 False ENSG00000096696 ENSG00000096696 HGNC:3052 EDA gene EDA Expert Review Green;Royal Melbourne Hospital Ectodermal Dysplasia Dermatological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ectodermal dysplasia 1, hypohidrotic, X-linked, MIM# 305100;MONDO:0010585 Ectodermal dysplasia;HP:0000968 False 3 100;0;0 0.86 True ENSG00000158813 ENSG00000158813 HGNC:3157 EDAR gene EDAR Expert Review Green;Royal Melbourne Hospital Ectodermal Dysplasia Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, MIM# 129490;Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, MIM# 224900 Ectodermal dysplasia;HP:0000968 False 3 100;0;0 0.86 True ENSG00000135960 ENSG00000135960 HGNC:2895 EDARADD gene EDARADD Expert Review Green;Royal Melbourne Hospital Ectodermal Dysplasia Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ectodermal dysplasia, anhidrotic, autosomal recessive, Ectodermal dysplasia, anhidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal recessive Ectodermal dysplasia;HP:0000968 False 3 100;0;0 0.86 False ENSG00000186197 ENSG00000186197 HGNC:14341 ERCC2 gene ERCC2 Expert Review Green;Royal Melbourne Hospital Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 1, photosensitive, MIM# 601675 Ectodermal dysplasia;HP:0000968 9195225;9758621 False 3 100;0;0 0.86 True ENSG00000104884 ENSG00000104884 HGNC:3434 EVC gene EVC Expert Review;Expert Review Green;Royal Melbourne Hospital Ectodermal Dysplasia Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ellis-van Creveld syndrome, MIM# 225500;Weyers acrofacial dysostosis, MIM# 193530 Ectodermal dysplasia;HP:0000968 False 3 33;67;0 0.86 True ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ectodermal Dysplasia Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ellis-van Creveld syndrome, Weyers acrodental dysostosis Ectodermal dysplasia;HP:0000968 False 3 100;0;0 0.86 False ENSG00000173040 ENSG00000173040 HGNC:19747 FOSL2 gene FOSL2 Expert Review Green;Literature Ectodermal Dysplasia Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aplasia cutis-enamel dysplasia syndrome, MIM# 620789 Ectodermal dysplasia;HP:0000968 36197437 False 3 100;0;0 0.86 True ENSG00000075426 ENSG00000075426 HGNC:3798 GJB2 gene GJB2 Expert Review Green;Royal Melbourne Hospital Ectodermal Dysplasia Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, Bart-Pumphrey syndrome, Keratoderma, palmoplantar, with deafness, Vohwinkel syndrome, Hystrix-like ichthyosis with deafness, Keratitis-icthyosis-deafness syndrome Ectodermal dysplasia;HP:0000968 False 3 0;0;0 0.86 False ENSG00000165474 ENSG00000165474 HGNC:4284 GJB6 gene GJB6 Expert Review Green;Royal Melbourne Hospital Ectodermal Dysplasia Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, Deafness, autosomal dominant 3B, Ectodermal dysplasia, hidrotic (Clouston syndrome) Ectodermal dysplasia;HP:0000968 False 3 0;0;0 0.86 False ENSG00000121742 ENSG00000121742 HGNC:4288 GRHL2 gene GRHL2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia/short stature syndrome MIM#616029 Ectodermal dysplasia;HP:0000968 25152456;27612988;19415813 False 3 67;33;0 0.86 True ENSG00000083307 ENSG00000083307 HGNC:2799 HOXC13 gene HOXC13 Expert Review Green;Literature;Royal Melbourne Hospital Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia 9, hair/nail type MIM#614931 Ectodermal dysplasia;HP:0000968 23063621;23315978;29278420 False 3 100;0;0 0.86 True ENSG00000123364 ENSG00000123364 HGNC:5125 HR gene HR Expert Review Green;Royal Melbourne Hospital Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Alopecia universalis MIM#203655;Atrichia with papular lesions MIM#209500 Ectodermal dysplasia;HP:0000968 False 3 100;0;0 0.86 True ENSG00000168453 ENSG00000168453 HGNC:5172 IFT122 gene IFT122 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Sensenbrenner syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2 Ectodermal dysplasia;HP:0000968 False 3 100;0;0 0.86 False ENSG00000163913 ENSG00000163913 HGNC:13556 IKBKG gene IKBKG Expert list;Expert Review Green;Victorian Clinical Genetics Services Ectodermal Dysplasia Dermatological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Ectodermal dysplasia and immunodeficiency 1 MIM3300291;Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency MIM#300301;Incontinentia pigmenti MIM#308300 Ectodermal dysplasia;HP:0000968 10839543;30422821 False 3 100;0;0 0.86 True ENSG00000073009 ENSG00000269335 HGNC:5961 JUP gene JUP Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ectodermal Dysplasia Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia, Naxos disease Ectodermal dysplasia;HP:0000968 False 3 100;0;0 0.86 False ENSG00000173801 ENSG00000173801 HGNC:6207 KDF1 gene KDF1 Expert Review Green;Royal Melbourne Hospital Ectodermal Dysplasia Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type Ectodermal dysplasia;HP:0000968 30977908;27838789;24075906 False 3 0;0;0 0.86 False ENSG00000175707 ENSG00000175707 HGNC:26624 KRT14 gene KRT14 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Ectodermal Dysplasia Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Naegeli-Franceschetti-Jadassohn syndrome MIM#161000;Dermatopathia pigmentosa reticularis MIM#125595" Ectodermal dysplasia;HP:0000968 16960809;30968399 False 3 100;0;0 0.86 True ENSG00000186847 ENSG00000186847 HGNC:6416 KRT85 gene KRT85 Expert list;Expert Review Green;Royal Melbourne Hospital Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia 4, hair/nail type, 602032 Ectodermal dysplasia;HP:0000968 False 3 100;0;0 0.86 False ENSG00000135443 ENSG00000135443 HGNC:6462 LEF1 gene LEF1 Expert Review Green;Literature Ectodermal Dysplasia Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, LEF1-related Ectodermal dysplasia;HP:0000968 32022899;35583550 False 3 100;0;0 0.86 True ENSG00000138795 ENSG00000138795 HGNC:6551 LRP6 gene LRP6 Expert Review Green;Royal Melbourne Hospital Ectodermal Dysplasia Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tooth agenesis, selective, 7 Ectodermal dysplasia;HP:0000968 False 3 0;0;0 0.86 False ENSG00000070018 ENSG00000070018 HGNC:6698 LSS gene LSS Expert Review Green;Literature Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Alopecia-mental retardation syndrome 4 MIM#618840;Hypotrichosis 14 MIM#618275 Ectodermal dysplasia;HP:0000968 30723320;32101538 False 3 100;0;0 0.86 True ENSG00000160285 ENSG00000160285 HGNC:6708 MAP3K20 gene MAP3K20 Expert Review Green;Literature Ectodermal Dysplasia Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic disease, MONDO:0002254, MAP3K20-related Ectodermal dysplasia;HP:0000968 38451290 False 3 100;0;0 0.86 True ENSG00000091436 ENSG00000091436 HGNC:17797 MBTPS2 gene MBTPS2 Expert Review Green;NHS GMS Ectodermal Dysplasia Dermatological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "IFAP syndrome with or without BRESHECK syndrome MIM#308205" Ectodermal dysplasia;HP:0000968 19361614;22105905;24313295 False 3 100;0;0 0.86 True ENSG00000012174 ENSG00000012174 HGNC:15455 MPLKIP gene MPLKIP Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 4, nonphotosensitive Ectodermal dysplasia;HP:0000968 False 3 100;0;0 0.86 False ENSG00000168303 ENSG00000168303 HGNC:16002 MSX1 gene MSX1 Expert Review Green;Royal Melbourne Hospital Ectodermal Dysplasia Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ectodermal dysplasia 3, Witkop type, 189500 Ectodermal dysplasia;HP:0000968 False 3 0;0;0 0.86 False ENSG00000163132 ENSG00000163132 HGNC:7391 NECTIN1 gene NECTIN1 Expert list;Expert Review Green Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060 Ectodermal dysplasia;HP:0000968 25913853 False 3 100;0;0 0.86 True ENSG00000110400 ENSG00000110400 HGNC:9706 NECTIN4 gene NECTIN4 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia-syndactyly syndrome 1 Ectodermal dysplasia;HP:0000968 False 3 100;0;0 0.86 False ENSG00000143217 ENSG00000143217 HGNC:19688 NFKB2 gene NFKB2 Expert Review Green;NHS GMS Ectodermal Dysplasia Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 10 MIM#615577 Ectodermal dysplasia;HP:0000968 31417880;28778864;27749582 False 3 100;0;0 0.86 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000077150 ENSG00000077150 HGNC:7795 NFKBIA gene NFKBIA Expert list;Expert Review Green Ectodermal Dysplasia Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ectodermal dysplasia and immunodeficiency 2 MIM#612132 Ectodermal dysplasia;HP:0000968 28597146 False 3 100;0;0 0.86 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000100906 ENSG00000100906 HGNC:7797 PAX9 gene PAX9 Expert Review Green;Royal Melbourne Hospital Ectodermal Dysplasia Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tooth agenesis, selective, 3 Ectodermal dysplasia;HP:0000968 False 3 0;0;0 0.86 False ENSG00000198807 ENSG00000198807 HGNC:8623 PKP1 gene PKP1 Expert list;Expert Review Green Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia/skin fragility syndrome MIM#604536 Ectodermal dysplasia;HP:0000968 26288439;9326952 False 3 100;0;0 0.86 True ENSG00000081277 ENSG00000081277 HGNC:9023 PORCN gene PORCN Expert Review Green;Royal Melbourne Hospital Ectodermal Dysplasia 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, MIM# 305600 Ectodermal dysplasia;HP:0000968 False 3 100;0;0 0.86 True ENSG00000102312 ENSG00000102312 HGNC:17652 PRKD1 gene PRKD1 Expert Review Green;Royal Melbourne Hospital Ectodermal Dysplasia Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects and ectodermal dysplasia, MIM# 617364 Ectodermal dysplasia;HP:0000968 27479907;32817298 False 3 100;0;0 0.86 True ENSG00000184304 ENSG00000184304 HGNC:9407 RIPK4 gene RIPK4 Expert Review Green;Literature Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal CHAND syndrome, OMIM:214350;Popliteal pterygium syndrome, Bartsocas-Papas type 1, OMIM:263650;ectodermal dysplasia syndrome, MONDO:0019287 Ectodermal dysplasia;HP:0000968 26129644;28940926;33713555;35220430 False 3 100;0;0 0.86 True ENSG00000183421 ENSG00000183421 HGNC:496 RMRP gene RMRP Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasia Ectodermal dysplasia;HP:0000968 False 3 100;0;0 0.86 False ENSG00000269900 ENSG00000269900 HGNC:10031 ST14 gene ST14 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 11 MIM#602400 Ectodermal dysplasia;HP:0000968 18843291;29611532;17273967 False 3 100;0;0 0.86 True ENSG00000149418 ENSG00000149418 HGNC:11344 TP63 gene TP63 Expert Review Green;Royal Melbourne Hospital Ectodermal Dysplasia Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndrome Ectodermal dysplasia;HP:0000968 False 3 0;0;0 0.86 False ENSG00000073282 ENSG00000073282 HGNC:15979 TSPEAR gene TSPEAR Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180 Ectodermal dysplasia;HP:0000968 27736875;30046887 False 3 100;0;0 0.86 True ENSG00000175894 ENSG00000175894 HGNC:1268 WDR35 gene WDR35 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5 Ectodermal dysplasia;HP:0000968 False 3 100;0;0 0.86 False ENSG00000118965 ENSG00000118965 HGNC:29250 WNT10A gene WNT10A Expert Review Green;Royal Melbourne Hospital Ectodermal Dysplasia Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Odontoonychodermal dysplasia, Tooth agenesis, selective, Schopf-Schulz-Passarge syndrome Ectodermal dysplasia;HP:0000968 False 3 100;0;0 0.86 False ENSG00000135925 ENSG00000135925 HGNC:13829 AXIN2 gene AXIN2 Expert Review;Expert Review Amber Ectodermal Dysplasia Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oligodontia-colorectal cancer syndrome, MIM# 608615 Ectodermal dysplasia;HP:0000968 15042511;21626677;21416598;34637023 False 2 0;100;0 0.86 True ENSG00000168646 ENSG00000168646 HGNC:904 IFT43 gene IFT43 Expert list;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 3 MIM#614099 Ectodermal dysplasia;HP:0000968 21378380;29896747 False 2 50;50;0 0.86 True ENSG00000119650 ENSG00000119650 HGNC:29669 KREMEN1 gene KREMEN1 Expert list;Expert Review Amber;Royal Melbourne Hospital Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia 13, hair/tooth type, 617392 Ectodermal dysplasia;HP:0000968 29526031;29526031 False 2 0;100;0 0.86 True ENSG00000183762 ENSG00000183762 HGNC:17550 TUFT1 gene TUFT1 Expert Review;Expert Review Amber Ectodermal Dysplasia Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Woolly hair-skin fragility syndrome, MIM# 620415 Ectodermal dysplasia;HP:0000968 36689522 False 2 0;100;0 0.86 True ENSG00000143367 ENSG00000143367 HGNC:12422