Ichthyosis and erythrokeratoderma

Gene: KRT6A

Green List (high evidence)

KRT6A (keratin 6A)
EnsemblGeneIds (GRCh38): ENSG00000205420
EnsemblGeneIds (GRCh37): ENSG00000205420
OMIM: 148041, Gene2Phenotype
KRT6A is in 3 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

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200
  • Pachyonychia congenital
  • Pachyonychia Congenita, Type 1
OMIM
148041
Clinvar variants
Variants in KRT6A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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