KLHL24

kelch like family member 24
OMIM: 611295, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green KLHL24 in Epidermolysis bullosa

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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epidermolysis bullosa simplex (autosomal dominant)

Green KLHL24 in Epidermolysis bullosa and congenital skin fragility


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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex, generalized, with scarring and hair loss, OMIM:617294