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Rare genetic inflammatory skin disorders

Gene: KRT1

Amber List (moderate 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)

I don't know

Plenty of evidence supporting disease association, but indications fit to ichthyosis and PPK panels - rationale for including in ISD?
Created: 12 Dec 2019, 3:08 p.m. | Last Modified: 12 Dec 2019, 3:08 p.m.
Panel Version: 0.21

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichthyosis histrix

Created: 12 Dec 2019, 3:08 p.m.
Last Modified: 12 Dec 2019, 3:08 p.m.
Panel version: 0.21

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, 2:02 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Created: 31 Jan 2019, 2:02 p.m.

Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Ichthyosis histrix
  • Palmoplantar keratoderma
  • Epidermolytic hyperkeratosis
OMIM
139350
Clinvar variants
Variants in KRT1
Penetrance
None
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Catherine Snow (Genomics England)

Source Expert Review Amber was added to KRT1. Added phenotypes Ichthyosis histrix; Palmoplantar keratoderma; Epidermolytic hyperkeratosis for gene: KRT1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

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 Rare genetic inflammatory skin disorders. 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