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 1.11

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 2.7
Latest signed off version: v2.2 (22 Mar 2023)

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