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  3. KLHL24
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Hypertrophic cardiomyopathy_HCM

Gene: KLHL24

Green List (high evidence)
KLHL24 (kelch like family member 24)
EnsemblGeneIds (GRCh38): ENSG00000114796
EnsemblGeneIds (GRCh37): ENSG00000114796
OMIM: 611295, Gene2Phenotype
KLHL24 is in 4 panels

1 review

Kristin Rigbye (Victorian Clinical Genetics Services)

Green List (high evidence)

Heterozygous variants in the start codon, resulting in the use of alternate downstream methionine at residue 29, have previously been reported in multiple patients with AD EBS. These variants have been shown to cause a gain of function, resulting in enhanced protein stability and higher abundance (OMIM).

Recent report of recessive KLHL24 variants in 2 unrelated consanguineous families (total of 7 sequenced affected individuals) with HCM (1 nonsense, 1 missense). A knockdown model of klhl24a in zebrafish recapitulated the cardiac phenotype, supporting loss of function as the mechanism in AR HCM (PMID: 30715372).
Sources: Literature
Created: 20 Apr 2020, 4:48 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294; Hypertrophic cardiomyopathy

Publications

Created: 20 Apr 2020, 4:48 a.m.

Panel version: 0.20

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236
OMIM
611295
Clinvar variants
Variants in KLHL24
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Feb 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KLHL24 were changed from Hypertrophic cardiomyopathy to Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236

20 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klhl24 has been classified as Green List (High Evidence).

20 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KLHL24 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

20 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294; Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy

20 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KLHL24 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

20 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klhl24 has been classified as Green List (High Evidence).

20 Apr 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Kristin Rigbye (Victorian Clinical Genetics Services)

gene: KLHL24 was added gene: KLHL24 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene: KLHL24 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KLHL24 were set to 27798626; 27889062; 30715372 Phenotypes for gene: KLHL24 were set to Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294; Hypertrophic cardiomyopathy Review for gene: KLHL24 was set to GREEN