Hypertrophic cardiomyopathy
Gene: TRIM63The 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
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 HCMCreated: 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
No OMIM phenotypeCreated: 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
Tag gene-checked tag was added to gene: TRIM63.
Tag Q3_21_rating was removed from gene: TRIM63. Tag Q3_21_NHS_review was removed from gene: TRIM63.
Source Expert Review Green was added to TRIM63. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: trim63 has been classified as Amber List (Moderate Evidence).
Tag Q3_21_rating tag was added to gene: TRIM63. Tag Q3_21_NHS_review tag was added to gene: TRIM63.
Phenotypes for gene: TRIM63 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045; restrictive cardiomyopathy, MONDO:0005201
Mode of inheritance for gene: TRIM63 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM63 were set to
Source South West GLH was added to TRIM63.
TRIM63 was added to Hypertrophic Cardiomyopathypanel. Sources: Literature
TRIM63 was created by ellenmcdonagh