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  3. TNNC1
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Cardiomyopathy_Paediatric

Gene: TNNC1

Green List (high evidence)
TNNC1 (troponin C1, slow skeletal and cardiac type)
EnsemblGeneIds (GRCh38): ENSG00000114854
EnsemblGeneIds (GRCh37): ENSG00000114854
OMIM: 191040, Gene2Phenotype
TNNC1 is in 8 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Classified as Definitive by ClinGen Hereditary Cardiovascular Disease GCEP - 13/09/2023
Created: 20 Aug 2024, 1:44 a.m. | Last Modified: 20 Aug 2024, 1:44 a.m.
Panel Version: 0.179
Created: 20 Aug 2024, 1:44 a.m.
Last Modified: 20 Aug 2024, 1:44 a.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.179

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

Amber rating

PMID: 30681346;
Classified as Moderate by ClinGen working group.
ClinGen curation: The TNNC1 gene has been associated with hypertrophic cardiomyopathy in 8 probands in 5 publications (PMID:11385718;8572189;21262074;22815480;26779504). Seven unique heterozygous variants (6 missense, 1 frameshift) with some evidence to support their pathogenicity and segregation in one family have been reported

* no additional probands found
Created: 28 Jul 2020, 11:46 p.m. | Last Modified: 28 Jul 2020, 11:46 p.m.
Panel Version: 0.89

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cardiomyopathy, hypertrophic, 13 (MIM# 613243)

Publications

Created: 28 Jul 2020, 11:46 p.m.
Last Modified: 28 Jul 2020, 11:46 p.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.89

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • London South GLH
  • South West GLH
  • NHS GMS
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 13,
  • Cardiomyopathy, dilated, 1Z
OMIM
191040
Clinvar variants
Variants in TNNC1
Penetrance
None
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TNNC1 was added gene: TNNC1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNC1 were set to Cardiomyopathy, familial hypertrophic, 13,; Cardiomyopathy, dilated, 1Z