Epidermolysis bullosa and congenital skin fragility

Gene: KRT1

Green List (high evidence)

KRT1 (keratin 1)
EnsemblGeneIds (GRCh38): ENSG00000167768
EnsemblGeneIds (GRCh37): ENSG00000167768
OMIM: 139350, Gene2Phenotype
KRT1 is in 7 panels

3 reviews

Catherine Snow (Genomics England)

Green List (high evidence)

Following discussion with the Genomics England clinical team KRT1 can be classified as Green.
Created: 4 Dec 2019, 10:30 a.m. | Last Modified: 4 Dec 2019, 10:30 a.m.
Panel Version: 0.24
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:KRT1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.15

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, 4:50 p.m.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Epidermolytic hyperkeratosis, OMIM:113800
OMIM
139350
Clinvar variants
Variants in KRT1
Penetrance
None
Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: KRT1 were changed from EHK; Epidermolytic hyperkeratosis, 113800; Islands of superficial peeling on the skin of the trunk and the extensor surface of the legs to Epidermolytic hyperkeratosis, OMIM:113800

4 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: krt1 has been classified as Green List (High Evidence).

2 Sep 2019, Gel status: 2

Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Amber was added to KRT1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: KRT1 was added gene: KRT1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KRT1 were set to EHK; Epidermolytic hyperkeratosis, 113800; Islands of superficial peeling on the skin of the trunk and the extensor surface of the legs