Epidermolysis bullosa and congenital skin fragility
Gene: KRT2

KRT2 (keratin 2)
EnsemblGeneIds (GRCh38): ENSG00000172867
EnsemblGeneIds (GRCh37): ENSG00000172867
OMIM: 600194, Gene2Phenotype
KRT2 is in 4 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Note from John McGrath (email correspondance): There is an argument to have KRT1, KRT10 and KRT2 as green genes as patients can present with skin fragility initially before the ichthyosis phenotype ensues.
Created: 7 Jan 2019, 4:51 p.m.

Created: 7 Jan 2019, 4:51 p.m.

Panel version: 0.9

David Kelsell (Queen Mary University of London)

Red List (low evidence)

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

Phenotypes
Ichthyosis bullosa of Siemens, 146800; blistering, superficial peeling of the skin, and localized lichenified hyperkeratosis

Created: 12 Dec 2016, 11:51 a.m.

Panel version: Imported from Peeling skin syndrome panel version 0.32

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red

Phenotypes

Ichthyosis bullosa of Siemens, 146800
blistering, superficial peeling of the skin, and localized lichenified hyperkeratosis

OMIM

600194

Clinvar variants

Variants in KRT2

Penetrance

None

Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: KRT2 was added gene: KRT2 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red Mode of inheritance for gene: KRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KRT2 were set to Ichthyosis bullosa of Siemens, 146800; blistering, superficial peeling of the skin, and localized lichenified hyperkeratosis

Epidermolysis bullosa and congenital skin fragility Gene: KRT2