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  2. Paediatric or syndromic cardiomyopathy
  3. TNNC1
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Paediatric or syndromic cardiomyopathy

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 6 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Created: 2 Dec 2019, 3:58 p.m.
Last Modified: 2 Dec 2019, 3:58 p.m.
Panel version: 0.16

Rebecca Whittington (South West GLH)

Green List (high evidence)

Cardiomyopathy, dilated, 1Z OMIM#611879; Cardiomyopathy, hypertrophic, 13 OMIM#613243
Created: 25 Mar 2019, 4:30 p.m.
Key cardiomyopathy gene. Experience in the lab of paeditatric onset disease. Parvatiyar J Biol Chem. 2012 Sep 14; 287(38): 3184531855: reported cardiomyopathy onset in a 5 year old.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Mar 2019, 4:24 p.m.

Panel version: Imported from Previous cardiomyopathies - including childhood onset panel version 1.9

Details

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

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TNNC1.

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

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