Pigmentary skin disordersGene: KRT5
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DOWLING-DEGOS DISEASE 1; DDD1
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: KRT5; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.
Mode of inheritance for gene KRT5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes DOWLING-DEGOS DISEASE 1; DDD1 for gene: KRT5 Publications for gene KRT5 were changed from to 16465624
Source London North GLH was added to KRT5.
gene: KRT5 was added gene: KRT5 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRT5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KRT5 were set to Dowling-Degos disease; Epidermolysis bullosa