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 COL17A1 gene COL17A1 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Epidermolysis bullosa Skin fragility disorders Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolysis bullosa, junctional 4, intermediate, OMIM:619787 7550320;9012408;10951237;10577906 False 3 100;0;0 1.12 False ENSG00000065618 ENSG00000065618 HGNC:2194 COL7A1 gene COL7A1 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Epidermolysis bullosa Skin fragility disorders Dermatological disorders 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 23616197;24599399;20055845;19197535;11781296 False 3 100;0;0 1.12 False ENSG00000114270 ENSG00000114270 HGNC:2214 DSP gene DSP Eligibility statement prior genetic testing;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Epidermolysis bullosa Skin fragility disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, lethal acantholytic, OMIM:609638;Skin fragility-woolly hair syndrome, OMIM:607655 False 3 100;0;0 1.12 False ENSG00000096696 ENSG00000096696 HGNC:3052 DST gene DST Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen Epidermolysis bullosa Skin fragility disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa simplex, autosomal recessive 2, 615425;Epidermolysis bullosa simplex 20164846;22113475;27669234;26719633;25059916 False 3 100;0;0 1.12 False ENSG00000151914 ENSG00000151914 HGNC:1090 EXPH5 gene EXPH5 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen Epidermolysis bullosa Skin fragility disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, nonspecific, autosomal recessive, 615028;Epidermolysis bullosa simplex 23176819;26719633;27730671 False 3 100;0;0 1.12 False ENSG00000110723 ENSG00000110723 HGNC:30578 FERMT1 gene FERMT1 Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Epidermolysis bullosa Skin fragility disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Kindler syndrome,173650;Kindler syndrome (a separate category of Epidermolysis bullosa) 12668616;12789646;27862150;27489438 False 3 100;0;0 1.12 False ENSG00000101311 ENSG00000101311 HGNC:15889 ITGA3 gene ITGA3 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen Epidermolysis bullosa Skin fragility disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, nonspecific, autosomal recessive, 615028;Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome;Junctional Epidermolysis bullosa 26719633;27717396;26854491;22512483;23114595 False 3 100;0;0 1.12 False ENSG00000005884 ENSG00000005884 HGNC:6139 ITGA6 gene ITGA6 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Epidermolysis bullosa Skin fragility disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, with pyloric stenosis, 226730;Epidermolysis Bullosa with Pyloric Atresia;Epidermolysis bullosa with pyloric atresia;generalised intermediate junctional Epidermolysis bullosa 9185503;27186702;26739954;26817667 False 3 100;0;0 1.12 False ENSG00000091409 ENSG00000091409 HGNC:6142 ITGB4 gene ITGB4 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Epidermolysis bullosa Skin fragility disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, with pyloric atresia, 226730;Epidermolysis bullosa with pyloric atresia;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Generalised intermediate junctional Epidermolysis bullosa 10484780;7545057;18348258;10792571 False 3 100;0;0 1.12 False ENSG00000132470 ENSG00000132470 HGNC:6158 JUP gene JUP Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Epidermolysis bullosa Skin fragility disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Naxos disease, OMIM:601214;Generalised skin fragility, epidermolysis bullosa 10902626;20130592;21668431;19067702 False 3 100;0;0 1.12 False ENSG00000173801 ENSG00000173801 HGNC:6207 KLHL24 gene KLHL24 Expert Review Green;Literature Epidermolysis bullosa Skin fragility disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epidermolysis bullosa simplex (autosomal dominant) Nat Genet. 2016 Dec;48(12):1508-1516. Am J Hum Genet. 2016 Dec 1;99(6):1395-1404. J Invest Dermatol. 2017 Jan 19. pii: S0022-202X(17)30032-5 False 3 100;0;0 1.12 True Other - please provide details in the comments ENSG00000114796 ENSG00000114796 HGNC:25947 KRT14 gene KRT14 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Epidermolysis bullosa Skin fragility disorders Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760;Epidermolysis bullosa simplex, Koebner type (AD), 131900;Epidermolysis Bullosa Simplex, Generalized;Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800;Epidermolysis Bullosa Simplex, Localized;Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000;Epidermolysis bullosa simplex, recessive 1 (AR), 601001;Dermatopathia pigmentosa reticularis (AD), 125595 1717157;10733662;1720261;7682883;7506606;16098032;12485428;16960809;7526933;7525408;7561171 False 3 100;0;0 1.12 False ENSG00000186847 ENSG00000186847 HGNC:6416 KRT5 gene KRT5 Eligibility statement prior genetic testing;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Epidermolysis bullosa Skin fragility disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epidermolysis bullosa simplex, Dowling-Meara type, 131760;Epidermolysis bullosa simplex, Koebner type, 131900;Epidermolysis bullosa simplex, Weber-Cockayne type, 131800;Epidermolysis bullosa simplex with mottled pigmentation, 131960;Epidermolysis Bullosa Simplex;Epidermolysis Bullosa Simplex, Generalized;Epidermolysis Bullosa Simplex, Localized;Epidermolysis Bullosa Simplex, Dowling-Meara Type False 3 100;0;0 1.12 False ENSG00000186081 ENSG00000186081 HGNC:6442 LAMA3 gene LAMA3 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services Epidermolysis bullosa Skin fragility disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, generalized atrophic benign, 226650;Epidermolysis bullosa, junctional, non-Herlitz type;Epidermolysis bullosa, junctional, Herlitz type, 226700;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate);Laryngoonychocutaneous syndrome, 245660;Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform;Shabbir syndrome;Junctional Epidermolysis Bullosa 12915477;8618022;20301304;11810295;8586427;8530087;8618022 False 3 100;0;0 1.12 False ENSG00000053747 ENSG00000053747 HGNC:6483 LAMB3 gene LAMB3 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Epidermolysis bullosa Skin fragility disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, Herlitz type, 226700;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate) 7698759;8824879;9205497;7706760;8824879;9856855 False 3 100;0;0 1.12 False ENSG00000196878 ENSG00000196878 HGNC:6490 LAMC2 gene LAMC2 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Epidermolysis bullosa Skin fragility disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, Herlitz type, 226700;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate) 8012393;8012394;10951251;11810295;11564184;20336083;11907499;16473856 False 3 100;0;0 1.12 False ENSG00000058085 ENSG00000058085 HGNC:6493 PKP1 gene PKP1 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Epidermolysis bullosa Skin fragility disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia/skin fragility syndrome, 604536;McGrath Syndrome;Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa 19945625;25565931;26288439;28182260;24073657 False 3 100;0;0 1.12 False ENSG00000081277 ENSG00000081277 HGNC:9023 PLEC gene PLEC Eligibility statement prior genetic testing;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN Epidermolysis bullosa Skin fragility disorders Dermatological disorders 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 False 3 100;0;0 1.12 False ENSG00000178209 ENSG00000178209 HGNC:9069 TGM5 gene TGM5 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Epidermolysis bullosa Skin fragility disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 2, 609796;Acral peeling skin sydrome 16380904;20164844;22036214;22622422 False 3 100;0;0 1.12 False ENSG00000104055 ENSG00000104055 HGNC:11781 CD151 gene CD151 Expert Review Red;Radboud University Medical Center, Nijmegen Epidermolysis bullosa Skin fragility disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Nephropathy with pretibial epidermolysis bullosa and deafness, 609057;[Blood group, Raph], 179620;Kindler syndrome-like epidermolysis bullosa 29138120 False 1 0;0;100 1.12 False ENSG00000177697 ENSG00000177697 HGNC:1630 MMP1 gene MMP1 Radboud University Medical Center, Nijmegen Epidermolysis bullosa Skin fragility disorders Dermatological disorders COPD, rate of decline of lung function in, 606963; {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 False 1 0;0;100 1.12 False ENSG00000196611 ENSG00000196611 HGNC:7155