Palmoplantar keratoderma and erythrokeratodermas
Gene: KRT6AComment when marking as ready: Rated as green. Not a DD-confirmed gene, but the literature confirms that KRT6A is a known gene for pachyonychia congenita (PC), and there are >3 KRT6A variants recorded for pachyonychia congenita 3 (OMIM:615726) in a range of populations (Slovenian, Chinese, others not-recorded). These include a number of sporadic cases reported by Terrinoni et al., (2001, PMID:11886499).Created: 5 Jan 2017, 4:26 p.m.
Comment on list classification: Updated rating from Amber to Green: 1 green review plus >3 KRT6A variants recorded in OMIM for >3 unrelated cases of pachyonychia congenita 3 (OMIM:615726).Created: 5 Jan 2017, 4:23 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed in text of OMIM:615726 entry: pachyonychia congenita-3 (PC3) is caused by heterozygous mutation in the keratin-6a gene (KRT6A).Created: 5 Jan 2017, 4:18 p.m.
Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for KRT6A were set to 7545493; 16250204; 22098151
Mode of inheritance for KRT6A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
KRT6A was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: Radboud University Medical Center, Nijmegen
KRT6A was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: UKGTN
KRT6A was created by ellenmcdonagh
KRT6A was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Eligibility statement prior genetic testing