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 ATP2C1 gene ATP2C1 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hailey-Hailey disease, OMIM:169600 False 3 100;0;0 2.13 False ENSG00000017260 ENSG00000017260 HGNC:13211 CAST gene CAST Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, OMIM:616295 25683118 False 3 100;0;0 2.13 False ENSG00000153113 ENSG00000153113 HGNC:1515 CDSN gene CDSN Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 1, OMIM:270300 21191406;22146835;23957618;20691404 False 3 100;0;0 2.13 False ENSG00000204539 ENSG00000204539 HGNC:1802 COL17A1 gene COL17A1 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolysis bullosa, junctional 4, intermediate, OMIM:619787 7550320;9012408;10577906;10951237 False 3 100;0;0 2.13 False ENSG00000065618 ENSG00000065618 HGNC:2194 COL7A1 gene COL7A1 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolysis bullosa dystrophica (AD), OMIM:131750;Epidermolysis bullosa, pretibial (AR,AD), OMIM:131850;Epidermolysis bullosa dystrophica (AR), OMIM:226600;EBD, Bart type (AD), OMIM:132000;Epidermolysis bullosa pruriginosa, OMIM:604129;Transient bullous of the newborn (AR,AD), OMIM:131705;EBD inversa (AR), OMIM:226600 11781296;24599399;20055845;19197535;23616197 False 3 100;0;0 2.13 False ENSG00000114270 ENSG00000114270 HGNC:2214 CSTA gene CSTA Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 4, OMIM:607936 23534700;26684698;25400170;21944047 False 3 100;0;0 2.13 False ENSG00000121552 ENSG00000121552 HGNC:2481 DSG1 gene DSG1 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508;Keratosis palmoplantaris striata I, AD, OMIM:148700 False 3 100;0;0 2.13 False ENSG00000134760 ENSG00000134760 HGNC:3048 DSP gene DSP Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, lethal acantholytic, OMIM:609638;Skin fragility-woolly hair syndrome, OMIM:607655 False 3 100;0;0 2.13 False ENSG00000096696 ENSG00000096696 HGNC:3052 DST gene DST Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa simplex, autosomal recessive 2, OMIM:615425 27669234;26719633;25059916;22113475;20164846 False 3 100;0;0 2.13 False ENSG00000151914 ENSG00000151914 HGNC:1090 EXPH5 gene EXPH5 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, nonspecific, autosomal recessive, OMIM:615028 23176819;27730671;26719633 False 3 100;0;0 2.13 False ENSG00000110723 ENSG00000110723 HGNC:30578 FERMT1 gene FERMT1 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal Kindler syndrome, OMIM:173650 12789646;27489438;27862150;12668616 False 3 100;0;0 2.13 False ENSG00000101311 ENSG00000101311 HGNC:15889 FLG2 gene FLG2 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 6, OMIM:618084 False 3 100;0;0 2.13 False ENSG00000143520 ENSG00000143520 HGNC:33276 IKBKG gene IKBKG Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology X-LINKED: hemizygous mutation in males, biallelic mutations in females Incontinentia pigmenti, OMIM:308300 False 3 100;0;0 2.13 False ENSG00000073009 ENSG00000269335 HGNC:5961 ITGA3 gene ITGA3 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, OMIM:614748 26854491;23114595;27717396;22512483;26719633 False 3 100;0;0 2.13 False ENSG00000005884 ENSG00000005884 HGNC:6139 ITGA6 gene ITGA6 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, with pyloric stenosis, OMIM:226730 27186702;9185503;26739954;26817667 False 3 100;0;0 2.13 False ENSG00000091409 ENSG00000091409 HGNC:6142 ITGB4 gene ITGB4 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650;Epidermolysis bullosa, junctional, with pyloric atresia, OMIM:226730 18348258;10792571;7545057;10484780 False 3 100;0;0 2.13 False ENSG00000132470 ENSG00000132470 HGNC:6158 JUP gene JUP Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal Naxos disease, OMIM:601214;Generalised skin fragility, epidermolysis bullosa 20130592;19067702;10902626;21668431 False 3 100;0;0 2.13 False ENSG00000173801 ENSG00000173801 HGNC:6207 KLHL24 gene KLHL24 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epidermolysis bullosa simplex, generalized, with scarring and hair loss, OMIM:617294 27798626;27889062;28111128 False 3 100;0;0 2.13 False Other - please provide details in the comments ENSG00000114796 ENSG00000114796 HGNC:25947 KRT1 gene KRT1 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epidermolytic hyperkeratosis, OMIM:113800 False 3 50;0;50 2.13 False ENSG00000167768 ENSG00000167768 HGNC:6412 KRT10 gene KRT10 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epidermolytic hyperkeratosis, OMIM:113800 False 3 50;0;50 2.13 False ENSG00000186395 ENSG00000186395 HGNC:6413 KRT14 gene KRT14 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolysis bullosa simplex, Weber-Cockayne type (AD), OMIM:131800;Dermatopathia pigmentosa reticularis (AD), OMIM:125595;Naegeli-Franceschetti-Jadassohn syndrome (AD), OMIM:161000;Epidermolysis bullosa simplex, Koebner type (AD), OMIM:131900;Epidermolysis bullosa simplex, Dowling-Meara type (AD), OMIM:131760;Epidermolysis bullosa simplex, recessive 1 (AR), OMIM:601001 7506606;7526933;12485428;7525408;10733662;16960809;1720261;7682883;7561171;1717157;16098032 False 3 100;0;0 2.13 False ENSG00000186847 ENSG00000186847 HGNC:6416 KRT5 gene KRT5 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760;Epidermolysis bullosa simplex, Koebner type, OMIM:131900;Epidermolysis bullosa simplex with mottled pigmentation, OMIM:131960;Epidermolysis bullosa simplex, Weber-Cockayne type, OMIM:131800 False 3 100;0;0 2.13 False ENSG00000186081 ENSG00000186081 HGNC:6442 LAMA3 gene LAMA3 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700;Epidermolysis bullosa, generalized atrophic benign, OMIM:226650;Laryngoonychocutaneous syndrome, OMIM:245660 8586427;8618022;20301304;12915477;11810295;8530087 False 3 100;0;0 2.13 False ENSG00000053747 ENSG00000053747 HGNC:6483 LAMB3 gene LAMB3 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700;Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650 7706760;7698759;8824879;9205497;9856855 False 3 100;0;0 2.13 False ENSG00000196878 ENSG00000196878 HGNC:6490 LAMC2 gene LAMC2 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700;Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650 20336083;11564184;8012393;16473856;10951251;11810295;11907499;8012394 False 3 100;0;0 2.13 False ENSG00000058085 ENSG00000058085 HGNC:6493 PKP1 gene PKP1 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia/skin fragility syndrome, OMIM:604536 19945625;25565931;28182260;26288439;24073657 False 3 100;0;0 2.13 False ENSG00000081277 ENSG00000081277 HGNC:9023 PLEC gene PLEC Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolysis bullosa simplex, Ogna type (AD), OMIM:131950;Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670;Epidermolysis bullosa simplex with pyloric atresia (AR), OMIM:612138 False 3 100;0;0 2.13 False ENSG00000178209 ENSG00000178209 HGNC:9069 SERPINB8 gene SERPINB8 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 5, OMIM:617115 27476651 False 3 100;0;0 2.13 False ENSG00000166401 ENSG00000166401 HGNC:8952 SLC39A4 gene SLC39A4 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal Acrodermatitis enteropathica, OMIM:201100 False 3 100;0;0 2.13 False ENSG00000147804 ENSG00000147804 HGNC:17129 TGM5 gene TGM5 Expert Review Green Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 2, OMIM:609796;Acral peeling skin sydrome,MONDO:0012345 20164844;22622422;16380904;22036214 False 3 100;0;0 2.13 False ENSG00000104055 ENSG00000104055 HGNC:11781 ATP2A2 gene ATP2A2 Expert Review Amber Epidermolysis bullosa and congenital skin fragility Dermatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Darier disease, OMIM:124200;Acrokeratosis verruciformis, OMIM:101900;Darier disease, MONDO:0007417;acrokeratosis verruciformis, MONDO:0007048 10080178;10441325;35283639;38791022;38536168 False 2 67;33;0 2.13 False ENSG00000174437 ENSG00000174437 HGNC:812 CD151 gene CD151 Expert Review Amber Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057 29138120 False 2 0;50;50 2.13 False ENSG00000177697 ENSG00000177697 HGNC:1630 CTSB gene CTSB Expert Review Amber Epidermolysis bullosa and congenital skin fragility Dermatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 2.13 False ENSG00000164733 ENSG00000164733 HGNC:2527 DSC3 gene DSC3 Expert Review Amber Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal ?Hypotrichosis and recurrent skin vesicles, OMIM:613102 19765682;31790667 False 2 0;100;0 2.13 False ENSG00000134762 ENSG00000134762 HGNC:3037 NAXD gene NAXD Expert list;Expert Review Amber Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321 30576410;33224489;31755961 False 2 50;50;0 2.13 False ENSG00000213995 ENSG00000213995 HGNC:25576 PLOD3 gene PLOD3 Expert Review Amber Epidermolysis bullosa and congenital skin fragility Dermatology BIALLELIC, autosomal or pseudoautosomal 30463024;18834968 False 2 0;100;0 2.13 False ENSG00000106397 ENSG00000106397 HGNC:9083 SLC39A7 gene SLC39A7 Expert Review Amber Epidermolysis bullosa and congenital skin fragility Dermatology False 2 0;100;0 2.13 False ENSG00000112473 ENSG00000112473 HGNC:4927