Epidermolysis bullosa
Gene: KRT5
Other mutations in KRT5 cause other non-EB disorders such as Dowling-Degos disease.Created: 19 Nov 2015, 3:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epidermolysis bullosa simplex
Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for KRT5 were set to 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
Phenotypes for KRT5 were set to 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
KRT5 was added to Epidermolysis bullosapanel. Source: UKGTN
KRT5 was added to Epidermolysis bullosapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene KRT5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KRT5 was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen
KRT5 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing
KRT5 was created by ellenmcdonagh