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 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