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  3. TNNC1
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Dilated and arrhythmogenic 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

7 reviews

Kate Thomson (Oxford University Hospitals Foundation Trust)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. This gene did not achieve a consensus Green rating; however, the group agreed that the existing evidence (published and in-house data) was sufficient to support inclusion in this panel.
Created: 9 Dec 2019, 1:19 p.m. | Last Modified: 9 Dec 2019, 1:19 p.m.
Panel Version: 0.61
Created: 9 Dec 2019, 1:19 p.m.
Last Modified: 9 Dec 2019, 1:19 p.m.
Panel version: 0.61

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52
Created: 3 Dec 2019, 2:28 p.m.
Last Modified: 3 Dec 2019, 2:28 p.m.
Panel version: 0.52

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.
HGMD: 6/11 variants assoc with DCM classed as DM, including the variant in our family. A number of these variants have functional studies. Listed in this review of DCM genes: Hershberger 2013 Nat Rev Cardiol 10:531 and Dalin 2017 International Journal of Cardiology 228 (2017) 742748 (no variants detected).
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 Dilated Cardiomyopathy and conduction defects panel version 1.55

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has a Red review from one of these labs and therefore demoted to Amber for further discussion.
Created: 24 Mar 2019, 10:25 a.m.
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: Imported from Dilated cardiomyopathy - teen and adult panel version 1.46

James Eden (Manchester)

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. 25 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: currently no stated association with DCM, definitive association with hypertrophic cardiomyopathy 7 (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

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

Phenotypes
Cardiomyopathy, dilated, 1Z (611879); Cardiomyopathy, hypertrophic, 13 (613243)

Publications

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

Created: 14 Feb 2019, 1:38 p.m.

Panel version: Imported from Dilated cardiomyopathy - teen and adult panel version 1.44

Caroline Wright (Genomics England Curator)

Comment when marking as ready: On Manchester diagnostic panel
Created: 14 Feb 2016, 4:22 p.m.
Created: 14 Feb 2016, 4:22 p.m.

Panel version: Imported from Dilated cardiomyopathy - teen and adult panel version 0.6

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Created: 6 Jan 2016, 5:12 p.m.

Panel version: Imported from Dilated cardiomyopathy - teen and adult panel version 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, hypertrophic, 13 (613243)
  • Cardiomyopathy, dilated, 1Z
  • Cardiomyopathy, dilated, 1Z (611879)
OMIM
191040
Clinvar variants
Variants in TNNC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Dec 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to TNNC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

24 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: tnnc1 has been classified as Amber List (Moderate Evidence).

8 Mar 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: TNNC1 was added gene: TNNC1 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNNC1 were set to 20186049; 27532257 Phenotypes for gene: TNNC1 were set to Cardiomyopathy, hypertrophic, 13 (613243); Cardiomyopathy, dilated, 1Z; Cardiomyopathy, dilated, 1Z (611879)