Muscular dystrophy and myopathy_Paediatric

Gene: TNNC2

Amber List (moderate evidence)

TNNC2 (troponin C2, fast skeletal type)
EnsemblGeneIds (GRCh38): ENSG00000101470
EnsemblGeneIds (GRCh37): ENSG00000101470
OMIM: 191039, Gene2Phenotype
TNNC2 is in 2 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Age of onset is soon after birth

PMID: 33755597
2 individuals from unrelated families
Muscle biopsies showed hypertrophy or slow-twitch myofibres.
Sources: Other
Created: 9 May 2023, 3:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital Myopathy 15 (MIM#62016)

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two families reported:
Family 1: 4 individuals, three generations; missense variant p.(Asp34Tyr)
Family 2: de novo variant, missense p.(Met79Ile)

Physiological studies in myofibers isolated from patients’ biopsies revealed a markedly reduced force response of the sarcomeres to [Ca2+]. This pathomechanism was further confirmed in experiments in which contractile dysfunction was evoked by replacing TnC in myofibers from healthy control subjects with recombinant, mutant TnC. Conversely, the contractile dysfunction of myofibers from patients was repaired by replacing endogenous, mutant TnC with recombinant, wild-type TnC.

Borderline Green: sufficient segregation in Fam 1 plus de novo status in Fam 2, plus functional data.
Sources: Literature
Created: 7 Dec 2022, 9:13 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, congenital, with neonatal respiratory insufficiency, MIM# 620161

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital Myopathy 15 (MIM#62016)
OMIM
191039
Clinvar variants
Variants in TNNC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

1 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

9 May 2023, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: TNNC2 was added gene: TNNC2 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: TNNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNNC2 were set to 33755597 Phenotypes for gene: TNNC2 were set to Congenital Myopathy 15 (MIM#62016) Review for gene: TNNC2 was set to AMBER