Hypertrophic cardiomyopathy
Gene: KLHL24EnsemblGeneIds (GRCh38): ENSG00000114796
EnsemblGeneIds (GRCh37): ENSG00000114796
OMIM: 611295, Gene2Phenotype
KLHL24 is in 4 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 11 Dec 2025, 4:05 p.m. | Last Modified: 11 Dec 2025, 4:05 p.m.
Panel Version: 5.22
Sarah Leigh (Genomics England Curator)
Biallelic KLHL24 variants have been associated with Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, (OMIM:620236). PMIDs 30715372; 32870709; 36672924 report a total of three KLHL24 variants three unrelated cases. Where the analysis had been performed, the parents of the patients were heterozygous for the causative KLHL24 variant (PMID: 30715372; 36672924).Created: 8 Aug 2024, 4:41 p.m. | Last Modified: 8 Aug 2024, 4:41 p.m.
Panel Version: 4.16
Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)
KLHL24 variants have been reported in relation to autosomal recessive hypertrophic cardiomyopathy in several individuals from four families in three publications (PMIDs: 30715372, 32870709, 36672924) with variants including missense and nonsense variants. The mechanism of pathogenicity is reported to be loss of function. This gene-disease relationship is also supported by expression data (PMID: 23715323).
Sources: LiteratureCreated: 24 Jul 2024, 9:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypertrophic cardiomyopathy; Heart failure; arrhythmias; Risk of sudden death
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, OMIM:620236
- cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MONDO:0859372
- OMIM
- 611295
- Clinvar variants
- Variants in KLHL24
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: KLHL24. Tag Q3_24_NHS_review was removed from gene: KLHL24.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to KLHL24. Source NHS GMS was added to KLHL24. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: KLHL24. Tag Q3_24_NHS_review tag was added to gene: KLHL24.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: KLHL24 were changed from Hypertrophic cardiomyopathy; Heart failure; arrhythmias; Risk of sudden death to Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, OMIM:620236; cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MONDO:0859372
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: klhl24 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)gene: KLHL24 was added gene: KLHL24 was added to Hypertrophic cardiomyopathy. Sources: Literature Mode of inheritance for gene: KLHL24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLHL24 were set to 30715372; 32870709; 36672924 Phenotypes for gene: KLHL24 were set to Hypertrophic cardiomyopathy; Heart failure; arrhythmias; Risk of sudden death Review for gene: KLHL24 was set to GREEN