Congenital myopathy

Gene: TNNC2

Amber List (moderate evidence)

TNNC2 (troponin C2, fast skeletal type)
EnsemblGeneIds (GRCh38): ENSG00000101470
EnsemblGeneIds (GRCh37): ENSG00000101470
OMIM: 191039, Gene2Phenotype
TNNC2 is in 1 panel

4 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Red to Amber. This gene is currently not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 12 Jul 2021, 9:24 a.m. | Last Modified: 12 Jul 2021, 9:24 a.m.
Panel Version: 2.51
Comment on publications: PMID:26924529 was incorrectly entered for TNNC2
Created: 12 Jul 2021, 8:59 a.m. | Last Modified: 12 Jul 2021, 8:59 a.m.
Panel Version: 2.49

Dmitrijs Rots (RadboudUMC)

Green List (high evidence)

Two families with congenital myopathy and dominantly inherited TNNC2 variants and details functional analysis reported in PMID: 33755597.
Created: 22 Jun 2021, 1:35 p.m. | Last Modified: 22 Jun 2021, 1:35 p.m.
Panel Version: 2.28

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy

Publications

Mode of pathogenicity
Other

Louise Daugherty (Genomics England Curator)

I don't know

Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 26924529 is incorrect. The original file from London South GLH correctly associates PMID: 23746549 to the gene TRIP4, but for TNNC2 the publication field was blank (no data was supplied as evidence). The Green review rating for TNNC2 is the rating given by London South GLH. There is currently not enough evidence to support a Amber rating.
Created: 17 Oct 2019, 2:44 p.m. | Last Modified: 17 Oct 2019, 2:44 p.m.
Panel Version: 1.182
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.

Rachael Mein (Viapath at Guy's Hospital)

I don't know

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

Phenotypes
congenital myopathy

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • London South GLH
Phenotypes
  • congenital myopathy, MONDO:0019952
Tags
Q3_21_rating
OMIM
191039
Clinvar variants
Variants in TNNC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Jul 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: TNNC2.

12 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tnnc2 has been classified as Amber List (Moderate Evidence).

12 Jul 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TNNC2 were changed from congenital myopathy to congenital myopathy, MONDO:0019952

12 Jul 2021, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TNNC2 were set to 26924529

3 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TNNC2 were changed from severe congenital myopathy with congenital bone fractures, 616866 to congenital myopathy

30 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: TNNC2 were set to

30 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TNNC2 were changed from to severe congenital myopathy with congenital bone fractures, 616866

30 Apr 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: TNNC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TNNC2.

30 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TNNC2 was added gene: TNNC2 was added to Congenital myopathy. Sources: London South GLH Mode of inheritance for gene: TNNC2 was set to