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  3. TNNT2
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Hereditary neuropathy

Gene: TNNT2

Red List (low evidence)
TNNT2 (troponin T2, cardiac type)
EnsemblGeneIds (GRCh38): ENSG00000118194
EnsemblGeneIds (GRCh37): ENSG00000118194
OMIM: 191045, Gene2Phenotype
TNNT2 is in 7 panels

6 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.
Created: 29 Apr 2019, 12:53 p.m.

Panel version: 1.63

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

Unable to find any evidence of clear neuropathy association
Created: 29 Apr 2019, 12:30 p.m.

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

Phenotypes
Cardiomyopathy

Created: 29 Apr 2019, 12:30 p.m.

Panel version: 1.58

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Source: OMIM.
Created: 5 May 2016, 2:51 p.m.
Created: 5 May 2016, 2:51 p.m.

Panel version: 0.131

Alexander Rossor (UCL Institute of Neurology)

Not a CMT gene
Created: 9 Dec 2015, 8:50 a.m.
Created: 9 Dec 2015, 8:50 a.m.

Panel version: 0

Mary Reilly (Institute of Neurology)

Not a CMT gene
Created: 8 Dec 2015, 3:06 p.m.
Created: 8 Dec 2015, 3:06 p.m.

Panel version: 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • South West GLH
  • Emory Genetics Laboratory
Phenotypes
  • Cardiomyopathy
OMIM
191045
Clinvar variants
Variants in TNNT2
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cardiomyopathy for gene: TNNT2

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TNNT2.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to TNNT2.

5 May 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TNNT2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TNNT2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory