Epidermolysis bullosa and congenital skin fragility

Gene: KRT2

Red List (low evidence)

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.

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

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