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  2. Dilated Cardiomyopathy (DCM)
  3. TNNC1
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Dilated Cardiomyopathy (DCM)

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

Caroline Wright (Genomics England Curator)

Comment when marking as ready: On Manchester diagnostic panel
Created: 11 Feb 2016, 2:21 p.m.
Created: 11 Feb 2016, 2:21 p.m.

Panel version: 0.7

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Good functional candidate. Little amino acid variation listed in ExAC data; however, very low pick up in studies done to date. Both DCM and HCM cases reported with segregation in small numbers of family members.
Created: 6 Jan 2016, 5:12 p.m.

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

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

Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cardiomyopathy, dilated, 1Z
OMIM
191040
Clinvar variants
Variants in TNNC1
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TNNC1 was added to Dilated Cardiomyopathy (DCM)panel. Sources: UKGTN

13 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TNNC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TNNC1 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list

13 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TNNC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TNNC1 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list

13 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TNNC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TNNC1 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TNNC1 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list