1. Panels
  2. Epidermolysis bullosa
  3. KRT5
STRs in panel
Prev Next
Regions in panel
Prev Next

Epidermolysis bullosa

Gene: KRT5

Green List (high evidence)
KRT5 (keratin 5)
EnsemblGeneIds (GRCh38): ENSG00000186081
EnsemblGeneIds (GRCh37): ENSG00000186081
OMIM: 148040, Gene2Phenotype
KRT5 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, multiple subtypes of EB.
Created: 13 Feb 2021, 7:13 a.m. | Last Modified: 13 Feb 2021, 7:13 a.m.
Panel Version: 0.73

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dowling-Degos disease 1, MIM# 179850; Epidermolysis bullosa simplex-MCR, MIM# 609352; Epidermolysis bullosa simplex-MP 131960; Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760; Epidermolysis bullosa simplex, Koebner type, MIM# 131900; Epidermolysis bullosa simplex, recessive 1, MIM# 601001; Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800

Created: 13 Feb 2021, 7:13 a.m.
Last Modified: 13 Feb 2021, 7:13 a.m.
Panel version: 0.73

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dowling-Degos disease 1, MIM# 179850
  • Epidermolysis bullosa simplex-MCR, MIM# 609352
  • Epidermolysis bullosa simplex-MP 131960
  • Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760
  • Epidermolysis bullosa simplex, Koebner type, MIM# 131900
  • Epidermolysis bullosa simplex, recessive 1, MIM# 601001
  • Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800
OMIM
148040
Clinvar variants
Variants in KRT5
Penetrance
None
Panels with this gene

History Filter Activity

13 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: krt5 has been classified as Green List (High Evidence).

13 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KRT5 were changed from to Dowling-Degos disease 1, MIM# 179850; Epidermolysis bullosa simplex-MCR, MIM# 609352; Epidermolysis bullosa simplex-MP 131960; Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760; Epidermolysis bullosa simplex, Koebner type, MIM# 131900; Epidermolysis bullosa simplex, recessive 1, MIM# 601001; Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800

13 Feb 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KRT5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KRT5 was added gene: KRT5 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KRT5 was set to Unknown