1. Genes and Genomic Entities
  2. KLHL24

KLHL24

kelch like family member 24
OMIM: 611295, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green KLHL24 in Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.12

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


Level 2: Dermatology
Version 2.13
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
Green KLHL24 in Hypertrophic cardiomyopathy


Level 2: Cardiology
Version 5.29
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, OMIM:620236
    • cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MONDO:0859372
    Amber KLHL24 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 7.96
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy, OMIM:617294
    • epidermolysis bullosa simplex 6, generalized, with scarring and hair loss, MONDO:0015006
    • Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, OMIM:620236
    • cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MONDO:0859372
    Tags
    • Q3_25_promote_green