Palmoplantar keratoderma and erythrokeratodermas
Gene: KRT6A

KRT6A (keratin 6A)
EnsemblGeneIds (GRCh38): ENSG00000205420
EnsemblGeneIds (GRCh37): ENSG00000205420
OMIM: 148041, Gene2Phenotype
KRT6A is in 2 panels

2 reviews

Edel O'Toole (Queen Mary University of London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Pachyonychia congenita

Publications

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Rebecca Foulger (Genomics England curator)

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.

Created: 5 Jan 2017, 4:18 p.m.

Panel version: 0.44

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
UKGTN
Eligibility statement prior genetic testing

Phenotypes

Pachyonychia congenital
Pachyonychia Congenita, Type 1
Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200

OMIM

148041

Clinvar variants

Variants in KRT6A

Penetrance

Complete

Publications

Panels with this gene