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  3. TRIM63
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Hypertrophic cardiomyopathy_HCM

Gene: TRIM63

Green List (high evidence)
TRIM63 (tripartite motif containing 63)
EnsemblGeneIds (GRCh38): ENSG00000158022
EnsemblGeneIds (GRCh37): ENSG00000158022
OMIM: 606131, Gene2Phenotype
TRIM63 is in 3 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 30681346;
LIMITED by Clingen working group (last evaluated 2018)

PMID: 32451364
- 16 index cases with rare homozygous or compound heterozygous variants (15 HCM and one restrictive cardiomyopathy). None of these variants have homozygote counts in gnomAD.
- segregated in 3 families
- 1 index had another pathogenic truncating variant in MYBPC3
- 5 missense and 3 PTCs
- Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy
Sources: Literature
Created: 29 Jul 2020, 12:47 a.m. | Last Modified: 29 Jul 2020, 12:52 a.m.
Panel Version: 0.89

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypertrophic cardiomyopathy

Publications

Created: 29 Jul 2020, 12:47 a.m.
Last Modified: 29 Jul 2020, 12:52 a.m.
Panel version: 0.89

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy, MONDO:0005045
OMIM
606131
Clinvar variants
Variants in TRIM63
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

23 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRIM63 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045

29 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trim63 has been classified as Green List (High Evidence).

29 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trim63 has been classified as Green List (High Evidence).

29 Jul 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: TRIM63 was added gene: TRIM63 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene: TRIM63 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM63 were set to 30681346; 32451364 Phenotypes for gene: TRIM63 were set to Hypertrophic cardiomyopathy Penetrance for gene: TRIM63 were set to unknown Review for gene: TRIM63 was set to GREEN