Dilated Cardiomyopathy and conduction defects

Gene: TNNC1

Green List (high evidence)

Cardiomyopathy, dilated, 1Z OMIM#611879; Cardiomyopathy, hypertrophic, 13 OMIM#613243

Created: 25 Mar 2019, 4:30 p.m.

HGMD: 6/11 variants assoc with DCM classed as DM, including the variant in our family. A number of these variants have functional studies. Listed in this review of DCM genes: Hershberger 2013 Nat Rev Cardiol 10:531 and Dalin 2017 International Journal of Cardiology 228 (2017) 742748 (no variants detected).

Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.

Created: 20 Feb 2019, 2:17 p.m.

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. 25 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: currently no stated association with DCM, definitive association with hypertrophic cardiomyopathy 7 (accessed 29/01/2019).

Created: 14 Feb 2019, 1:38 p.m.

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

Phenotypes
Cardiomyopathy, dilated, 1Z (611879); Cardiomyopathy, hypertrophic, 13 (613243)

Publications

• 20186049
• 27532257

Variants in this GENE are reported as part of current diagnostic practice

Comment when marking as ready: On Manchester diagnostic panel

Created: 14 Feb 2016, 4:22 p.m.

Red List (low evidence)