Palmoplantar Keratoderma and Erythrokeratoderma
Gene: KRT17

KRT17 (keratin 17)
EnsemblGeneIds (GRCh38): ENSG00000128422
EnsemblGeneIds (GRCh37): ENSG00000128422
OMIM: 148069, Gene2Phenotype
KRT17 is in 6 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Also known as Jackson-Lawler type, the main clinical features are nail dystrophy, palmoplantar keratoderma, oral leucokeratosis and cysts.

PMID: 31823354;
- cohort of 815 individuals, 134 patients had variants in KRT17
- approx 61.8% presented with palmar keratoderma and approx 82.8% with plantar keratoderma
Created: 17 Aug 2020, 1:59 a.m. | Last Modified: 17 Aug 2020, 2:20 a.m.

Panel Version: 0.45

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

Phenotypes
Pachyonychia congenita 2 (MIM#167210)

Publications

31823354

Created: 17 Aug 2020, 1:59 a.m.
Last Modified: 17 Aug 2020, 2:20 a.m.
Panel version: 0.45

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Pachyonychia congenita 2 (MIM#167210)

OMIM

148069

Clinvar variants

Variants in KRT17

Penetrance

None

Publications

31823354

Panels with this gene