Palmoplantar keratoderma and erythrokeratodermas
Gene: KRT1
Comment when marking as ready: Discussed with Helen Brittain, who agrees with Green rating: Several (>3) unrelated cases in OMIM with appropriate phenotype for inclusion.Created: 3 Apr 2017, 9:17 a.m.
>3 KRT1 variants in >3 unrelated individuals reported in OMIM for 'epidermolytic palmoplantar keratoderma (OMIM:144200), Palmoplantar keratoderma, nonepidermolytic (OMIM:600962) and Keratosis palmoplantaris striata III (OMIM:607654) (amongst other disorders). Some of these mutations affect splicing: For example, in 3 Scottish kindreds with a mild form of OMIM:144200, Hatsell et al. (2001, PMID:11286630) identified a 4134G-A transition in the splice donor site of exon 6 of the KRT1 gene. The nucleotide substitution led to the utilization of a novel in-frame splice site 54 bases downstream of the mutation with the subsequent insertion of 18 amino acids into the 2B rod domain.Created: 23 Mar 2017, 10:20 a.m.
Comment on list classification: Updated rating from Red to Green: >3 relevant variants recorded in OMIM, and KRT1 is listed in the Prior Genetic testing set in the Eligibility statement.Created: 9 Jan 2017, 12:24 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 9 Jan 2017, 12:13 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).
Mode of inheritance for KRT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
KRT1 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: Radboud University Medical Center, Nijmegen
KRT1 was created by ellenmcdonagh
KRT1 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Eligibility statement prior genetic testing