Congenital myopathyGene: TNNC2
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
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
Mode of pathogenicity
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Tag Q3_21_rating tag was added to gene: TNNC2.
Gene: tnnc2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TNNC2 were changed from congenital myopathy to congenital myopathy, MONDO:0019952
Publications for gene: TNNC2 were set to 26924529
Phenotypes for gene: TNNC2 were changed from severe congenital myopathy with congenital bone fractures, 616866 to congenital myopathy
Publications for gene: TNNC2 were set to
Phenotypes for gene: TNNC2 were changed from to severe congenital myopathy with congenital bone fractures, 616866
Mode of inheritance for gene: TNNC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source NHS GMS was added to TNNC2.
gene: TNNC2 was added gene: TNNC2 was added to Congenital myopathy. Sources: London South GLH Mode of inheritance for gene: TNNC2 was set to