Genomics England
GMS Panels
Panels
Genes and Entities

KLHL24

kelch like family member 24
OMIM: 611295
PanelMode of inheritanceDetails
3 panels
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epidermolysis bullosa simplex, generalized, with scarring and hair loss, OMIM:617294
Green
in Hypertrophic cardiomyopathy
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
R-numbers: R131
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, OMIM:620236, cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MONDO:0859372
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 8.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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