Mosaic skin disorders - deep sequencing

Gene: KRT1

Green List (high evidence)

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

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

I479T; c.591+2T>A - ?not hotspots/activating mutations
Created: 5 Dec 2019, 3:40 p.m. | Last Modified: 5 Dec 2019, 3:40 p.m.
Panel Version: 0.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Epidermolytic hyperkeratosis; Ichthyosis histrix; Palmoplantar keratoderma


Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.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: 31 Jan 2019, 2:50 p.m.


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • London North GLH
  • Expert Review Green
  • Epidermolytic hyperkeratosis
  • Palmoplantar keratoderma
  • Ichthyosis histrix
Clinvar variants
Variants in KRT1
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene KRT1 were changed from to 28532675; 17255957

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to KRT1.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: KRT1 was added gene: KRT1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT1 were set to Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichthyosis histrix