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  3. KRT2
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Peeling skin syndrome

Gene: KRT2

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

1 review

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: 0.32

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Ichthyosis bullosa of Siemens, 146800
  • blistering, superficial peeling of the skin, and localized lichenified hyperkeratosis
OMIM
600194
Clinvar variants
Variants in KRT2
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Dec 2016, Gel status: 0

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

12 December 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.

8 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

KRT2 was created by rfoulger

8 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

KRT2 was added to Peeling skin syndromepanel. Sources: Other