Hypertrophic cardiomyopathy

Gene: TNNC1

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.

Created: 2 Dec 2019, 11:26 a.m. | Last Modified: 2 Dec 2019, 11:26 a.m.

Panel Version: 1.81

I don't know

Cardiomyopathy, hypertrophic, 13 (613243)

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

Troponin complex. Multiple reports to HGMD, a lot of functional evidence but does not appear to be any segregation. Classified as a main HCM causing gene in: 28369730. Weak evidence for primary pathogenic role: 28082330 - ?modifier. Minor HCM gene - 28790153. Termed core gene: 29567486

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

Green List (high evidence)

Gene on Royal Brompton diagnostic panel. Good evidence for HCM association, with segregation data. Only VUS detected so far in our lab

Created: 19 Mar 2019, 5:21 p.m.

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

Publications

• 30681346

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: 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

• 28369730
• 27532257

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

Comment when marking as ready: On Manchester diagnostic panel

Created: 11 Feb 2016, 3:11 p.m.

Green List (high evidence)

Good functional candidate. Little amino acid variation listed in ExAC data; however, very low pick up in studies done to date. Both DCM and HCM cases reported with segregation in small numbers of family members.

Created: 6 Jan 2016, 5:11 p.m.

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