PanelApp (staging)
  1. Genes and Genomic Entities
  2. KLHL24

KLHL24

kelch like family member 24
OMIM: 611295, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green KLHL24 in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 1.20

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermolysis bullosa simplex, generalized, with scarring and hair loss, MIM# 617294

Green KLHL24 in Hypertrophic cardiomyopathy_HCM


Level 2: Cardiovascular disorders
Version 1.0

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236

    Green KLHL24 in Mendeliome


    Version 1.2302

    		2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294
    • dilated cardiomyopathy
    • Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236

    Green KLHL24 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236