Rare genetic inflammatory skin disorders
Gene: KRT10
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
Phenotypes
Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichythosis with confetti
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: KRT10; 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 KRT10. Added phenotypes Ichythosis with confetti; Palmoplantar keratoderma; Epidermolytic hyperkeratosis for gene: KRT10 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source London North GLH was added to KRT10.
gene: KRT10 was added gene: KRT10 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRT10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichythosis with confetti; Pachyonychia congenita