Ichthyosis and erythrokeratodermaGene: KRT6A
Comment 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.
gene: KRT6A was added gene: KRT6A was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT6A were set to 16250204; 7545493; 22098151 Phenotypes for gene: KRT6A were set to Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; Pachyonychia congenital; Pachyonychia Congenita, Type 1