Palmoplantar Keratoderma and Erythrokeratoderma
Gene: KRT6C

KRT6C (keratin 6C)
EnsemblGeneIds (GRCh38): ENSG00000170465
EnsemblGeneIds (GRCh37): ENSG00000170465
OMIM: 612315, Gene2Phenotype
KRT6C is in 3 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Due to the clinical overlap with pachyonychia congenita (PC), it can also be known as PC-K6C in the literature

PMID: 31823354;
- cohort of 815 individuals, 23 patients had variants in KRT6C
- approx 41.2% presented with palmar keratoderma and 100% with plantar keratoderma
Created: 17 Aug 2020, 3:47 a.m. | Last Modified: 17 Aug 2020, 3:47 a.m.

Panel Version: 0.56

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

Phenotypes
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735)

Publications

31823354

Created: 17 Aug 2020, 3:47 a.m.
Last Modified: 17 Aug 2020, 3:47 a.m.
Panel version: 0.56

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735)

OMIM

612315

Clinvar variants

Variants in KRT6C

Penetrance

None

Publications

31823354

Panels with this gene