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  3. TNNC2
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Fetal anomalies

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

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Green List (high evidence)

Green on congenital myopathy panel.PMID 33755597: Two families with heterozygous missense variants c.100G>T p.(Asp34Tyr) and c.237G>C; p.(Met79Ile) associated with congenital myopathy with congenital weakness and severe respiratory muscle involvement but clinical improvement over time. 3 affected individuals in family 1, no family history for proband in family 2. Polyhydramnios and reduced fetal movements in 2/4 cases. Functional studies support pathogenicity of variants.Also emerging evidence for more severe recessive disorder:PMID 40560134: Homozygous splice variant c.314+1G>C in two pregnancies of the same couple with severe polyhydramnios, one terminated at 22 weeks due to lack of fetal movement and the other resulting in neonatal death due to myopathy.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
congenital myopathy 15, MONDO:0859335; Congenital myopathy 15, OMIM:620161

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • congenital myopathy 15, MONDO:0859335
  • Congenital myopathy 15, OMIM:620161
OMIM
191039
Clinvar variants
Variants in TNNC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: TNNC2 was added gene: TNNC2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TNNC2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: TNNC2 were set to 40560134; 33755597 Phenotypes for gene: TNNC2 were set to congenital myopathy 15, MONDO:0859335; Congenital myopathy 15, OMIM:620161