KRT5

keratin 5
OMIM: 148040, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green KRT5 in Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.6

review 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

Green KRT5 in Epidermolysis bullosa and congenital skin fragility


Version 1.49
Latest signed off version: v1.3 (15 Oct 2020)

review 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

Green KRT5 in Pigmentary skin disorders


Version 1.15
Latest signed off version: v1.4 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • DOWLING-DEGOS DISEASE 1
  • DDD1
  • Epidermolysis bullosa
  • Dowling-Degos disease

Green KRT5 in Severe Paediatric Disorders


Version 1.84

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Epidermolysis bullosa simplex, Weber-Cockayne type, 131800
  • Epidermolysis bullosa simplex, Koebner type, 131900
  • Epidermolysis bullosa simplex-MCR, 609352
  • Dowling-Degos disease 1, 179850
  • Epidermolysis bullosa simplex, Dowling-Meara type, 131760
  • Epidermolysis bullosa simplex-MP, 131960
  • Epidermolysis bullosa simplex, recessive 1, 601001