KRT5

keratin 5
OMIM: 148040, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green KRT5 in Epidermolysis bullosa Level 3: Skin fragility disorders Level 2: Dermatological disorders Version 1.12	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes 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
Green KRT5 in Epidermolysis bullosa and congenital skin fragility Level 2: Dermatology Version 2.13 Latest signed off version: v2.2 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes 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
Green KRT5 in Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes DOWLING-DEGOS DISEASE 1 DDD1 Epidermolysis bullosa Dowling-Degos disease