Hypertrophic cardiomyopathy - teen and adult

Gene: TRIM63

Red List (low evidence)

TRIM63 (tripartite motif containing 63)
EnsemblGeneIds (GRCh38): ENSG00000158022
EnsemblGeneIds (GRCh37): ENSG00000158022
OMIM: 606131, Gene2Phenotype
TRIM63 is in 1 panel

2 reviews

Rebecca Whittington (South West GLH)

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

Ellen McDonagh (Genomics England Curator)

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

Details

Mode of Inheritance
Unknown
Sources
  • South West GLH
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
OMIM
606131
Clinvar variants
Variants in TRIM63
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to TRIM63.

19 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TRIM63 was created by ellenmcdonagh

19 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TRIM63 was added to Hypertrophic Cardiomyopathypanel. Sources: Literature