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  3. KRT1
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Mosaic skin disorders

Gene: KRT1

Green List (high evidence)
KRT1 (keratin 1)
EnsemblGeneIds (GRCh38): ENSG00000167768
EnsemblGeneIds (GRCh37): ENSG00000167768
OMIM: 139350, Gene2Phenotype
KRT1 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ichthyosis histrix; Epidermolytic hyperkeratosis; Palmoplantar keratoderma

Created: 18 Feb 2021, 7:38 a.m.
Last Modified: 18 Feb 2021, 7:38 a.m.
Panel version: 0.4

Mathew Wallis (Tasmanian Clinical Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 18 Feb 2021, 6:21 a.m.
Last Modified: 18 Feb 2021, 6:21 a.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Phenotypes
  • Ichthyosis histrix
  • Epidermolytic hyperkeratosis
  • Palmoplantar keratoderma
Tags
somatic
OMIM
139350
Clinvar variants
Variants in KRT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Feb 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag somatic tag was added to gene: KRT1.

18 Feb 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KRT1 was added gene: KRT1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT1 were set to 28532675; 17255957 Phenotypes for gene: KRT1 were set to Ichthyosis histrix; Epidermolytic hyperkeratosis; Palmoplantar keratoderma