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Peeling skin syndrome

Gene: KRT1

Red List (low evidence)
KRT1 (keratin 1)
EnsemblGeneIds (GRCh38): ENSG00000167768
EnsemblGeneIds (GRCh37): ENSG00000167768
OMIM: 139350, Gene2Phenotype
KRT1 is in 7 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
Epidermolytic hyperkeratosis, 113800; EHK; Islands of superficial peeling on the skin of the trunk and the extensor surface of the legs

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
  • Epidermolytic hyperkeratosis, 113800
  • EHK
  • Islands of superficial peeling on the skin of the trunk and the extensor surface of the legs
OMIM
139350
Clinvar variants
Variants in KRT1
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)

KRT1 was created by rfoulger

8 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

KRT1 was added to Peeling skin syndromepanel. Sources: Other