Mosaic skin disorders
Gene: KRT10

KRT10 (keratin 10)
EnsemblGeneIds (GRCh38): ENSG00000186395
EnsemblGeneIds (GRCh37): ENSG00000186395
OMIM: 148080, Gene2Phenotype
KRT10 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epidermolytic hyperkeratosis MIM#113800; Pachyonychia congenita; Ichythosis with confetti, MIM#609165; Palmoplantar keratoderma

Created: 18 Feb 2021, 7:38 a.m.
Last Modified: 18 Feb 2021, 7:38 a.m.
Panel version: 0.4

Mathew Wallis (Tasmanian Clinical Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

PMID: 29135017
PMID: 25495838

Created: 18 Feb 2021, 6:21 a.m.
Last Modified: 18 Feb 2021, 6:21 a.m.
Panel version: 0.1

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp
NHS GMS

Phenotypes

Epidermolytic hyperkeratosis
Pachyonychia congenita
Ichythosis with confetti
Palmoplantar keratoderma

OMIM

148080

Clinvar variants

Variants in KRT10

Penetrance

None

Publications

Panels with this gene

History Filter Activity

18 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: krt10 has been classified as Green List (High Evidence).