Rare genetic inflammatory skin disordersGene: KRT1
Plenty of evidence supporting disease association, but indications fit to ichthyosis and PPK panels - rationale for including in ISD?
Created: 12 Dec 2019, 3:08 p.m. | Last Modified: 12 Dec 2019, 3:08 p.m.
Panel Version: 0.21
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichthyosis histrix
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: KRT1; 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, 2:02 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Amber was added to KRT1. Added phenotypes Ichthyosis histrix; Palmoplantar keratoderma; Epidermolytic hyperkeratosis for gene: KRT1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source London North GLH was added to KRT1.
gene: KRT1 was added gene: KRT1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT1 were set to Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichthyosis histrix