Palmoplantar Keratoderma and Erythrokeratoderma
Gene: KRT9

KRT9 (keratin 9)
EnsemblGeneIds (GRCh38): ENSG00000171403
EnsemblGeneIds (GRCh37): ENSG00000171403
OMIM: 607606, Gene2Phenotype
KRT9 is in 2 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established association with palmoplantar keratoderma, epidermolytic. Gene-disease association originally described in 1994 and >10 families described since.
Created: 17 Aug 2020, 5:07 a.m. | Last Modified: 17 Aug 2020, 5:07 a.m.

Panel Version: 0.56

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

Phenotypes
Palmoplantar keratoderma, epidermolytic (MIM#144200)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Aug 2020, 5:07 a.m.
Last Modified: 17 Aug 2020, 5:07 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, epidermolytic (MIM#144200)

OMIM

607606

Clinvar variants

Variants in KRT9

Penetrance

None

Publications

Panels with this gene