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  3. KRT5
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Epidermolysis bullosa and congenital skin fragility

Gene: KRT5

Green List (high evidence)
KRT5 (keratin 5)
EnsemblGeneIds (GRCh38): ENSG00000186081
EnsemblGeneIds (GRCh37): ENSG00000186081
OMIM: 148040, Gene2Phenotype
KRT5 is in 3 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Epidermolysis Bullosa Simplex, Dowling-Meara Type;Epidermolysis Bullosa Simplex;Epidermolysis bullosa simplex, Dowling-Meara type, 131760;Epidermolysis Bullosa Simplex, Generalized;Epidermolysis bullosa simplex, Koebner type, 131900;Epidermolysis bullosa simplex with mottled pigmentation, 131960;Epidermolysis Bullosa Simplex, Localized;Epidermolysis bullosa simplex, Weber-Cockayne type, 131800
Created: 24 Mar 2021, 1:02 p.m. | Last Modified: 24 Mar 2021, 1:02 p.m.
Panel Version: 1.30
Created: 24 Mar 2021, 1:02 p.m.
Last Modified: 24 Mar 2021, 1:02 p.m.
Panel version: 1.30

John McGrath (King's College London)

Green List (high evidence)

Other mutations in KRT5 cause other non-EB disorders such as Dowling-Degos disease.
Created: 19 Nov 2015, 3:43 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Epidermolysis bullosa simplex

Created: 19 Nov 2015, 3:43 p.m.

Panel version: Imported from Epidermolysis bullosa panel version 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760
  • Epidermolysis bullosa simplex, Koebner type, OMIM:131900
  • Epidermolysis bullosa simplex with mottled pigmentation, OMIM:131960
  • Epidermolysis bullosa simplex, Weber-Cockayne type, OMIM:131800
OMIM
148040
Clinvar variants
Variants in KRT5
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: KRT5 were changed from Epidermolysis Bullosa Simplex, Dowling-Meara Type; Epidermolysis Bullosa Simplex; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex with mottled pigmentation, 131960; Epidermolysis Bullosa Simplex, Localized; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 to Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760; Epidermolysis bullosa simplex, Koebner type, OMIM:131900; Epidermolysis bullosa simplex with mottled pigmentation, OMIM:131960; Epidermolysis bullosa simplex, Weber-Cockayne type, OMIM:131800

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: KRT5 was added gene: KRT5 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: KRT5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KRT5 were set to Epidermolysis Bullosa Simplex, Dowling-Meara Type; Epidermolysis Bullosa Simplex; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex with mottled pigmentation, 131960; Epidermolysis Bullosa Simplex, Localized; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800