Epidermolysis bullosa

Gene: KRT5

Green List (high evidence)

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

1 review

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Epidermolysis bullosa simplex, Dowling-Meara type, 131760
  • Epidermolysis bullosa simplex, Koebner type, 131900
  • Epidermolysis bullosa simplex, Weber-Cockayne type, 131800
  • Epidermolysis bullosa simplex with mottled pigmentation, 131960
  • Epidermolysis Bullosa Simplex
  • Epidermolysis Bullosa Simplex, Generalized
  • Epidermolysis Bullosa Simplex, Localized
  • Epidermolysis Bullosa Simplex, Dowling-Meara Type
OMIM
148040
Clinvar variants
Variants in KRT5
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Apr 2017, Gel status: 3

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation.

21 Apr 2017, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for KRT5 were set to Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Epidermolysis bullosa simplex with mottled pigmentation, 131960; Epidermolysis Bullosa Simplex; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis Bullosa Simplex, Localized; Epidermolysis Bullosa Simplex, Dowling-Meara Type

21 Apr 2017, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for KRT5 were set to Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Epidermolysis bullosa simplex with mottled pigmentation, 131960; Epidermolysis Bullosa Simplex; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis Bullosa Simplex, Localized; Epidermolysis Bullosa Simplex, Dowling-Meara Type

28 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

KRT5 was added to Epidermolysis bullosapanel. Source: UKGTN

28 Oct 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

KRT5 was added to Epidermolysis bullosapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene KRT5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KRT5 was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen

28 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KRT5 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing

28 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KRT5 was created by ellenmcdonagh