Hypertrophic cardiomyopathy

Gene: TRIM63

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621270) and the OMIM record was last accessed on 18 December 2025.

Created: 18 Dec 2025, 3:55 p.m. | Last Modified: 18 Dec 2025, 3:55 p.m.

Panel Version: 5.23

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 3 Mar 2022, 1:23 p.m. | Last Modified: 3 Mar 2022, 1:23 p.m.

Panel Version: 2.35

Comment on list classification: Promoted from Red to Amber. This gene is not associated with a phenotype in OMIM or Gene2Phenotype.

PMID:32451364 reported 16 index cases with homozygous/compound het TRIM63 variants. 15 have HCM and 1 with restrictive cardiomyopathy. Only those with homozygous/compound het variants had disease (heterozygous family members were healthy).

This gene should be promoted to Green status at the next review as there is enough evidence to support a gene-disease association.

Created: 28 Sep 2021, 9:21 a.m. | Last Modified: 28 Sep 2021, 9:21 a.m.

Panel Version: 2.26

Green List (high evidence)

Salazar-Mendiguchia et al. Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy, 2020, Heart DOI: 10.1136/heartjnl-2020-316913. New work involving sequencing of 4867 HCM patients. Full details of mutations and families in online supplement. Total of 20 index cases identified.

Also one further case report from a different group: Jokela et al Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy, 2019,
J Neuromuscul Dis DOI: 10.3233/JND-180350

Other published data are unconvincing about TRIM63 monoallelic variants as a monogenic cause of HCM

Created: 27 Sep 2021, 8:57 p.m. | Last Modified: 27 Sep 2021, 8:57 p.m.

Panel Version: 2.22

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hypertrophic cardiomyopathy; restrictive cardiomyopathy

Publications

• PMID 32451364

I don't know

No OMIM phenotype

Created: 25 Mar 2019, 4:30 p.m.

Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 3.

Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
Unknown

On the Inherited Cardiac Condition Genes panel for Hypertrophic cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 3.

Created: 19 Feb 2016, 12:30 p.m.

Publications

• 22821932
• doi:10.​1007/​s12265-016-9673-5