Arrhythmogenic right ventricular cardiomyopathy

Gene: TTN

This gene will been flagged for review at the next GMS panel update, in the context of newly published data (added 'for-review' tag). High occurrence of arrhythmias has been associated with TTN-related DCM, which often precedes a DCM diagnosis. Therefore, there may be value in considering inclusion on this panel.

Created: 2 Nov 2020, 12:37 p.m. | Last Modified: 2 Nov 2020, 12:37 p.m.

Panel Version: 2.12

Recent 2020 paper (PMID: 33106378) reports a high burden of arrhythmias associated with TTNtv-related DCM. From a total of 115 patients, 43% had atrial fibrillation, 23% had ventricular arrhythmias, and 13% had other supraventricular arrhythmias. In 20% an arrhythmia preceded the DCM diagnosis.

Created: 2 Nov 2020, 12:24 p.m. | Last Modified: 2 Nov 2020, 12:29 p.m.

Panel Version: 2.12

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

Phenotypes
Cardiomyopathy, dilated, 1G, 604145

Publications

• 33106378

Red List (low evidence)

Submitted on behalf of NHS GMS "NHS disagree that TTN should be Green on the panel."

Created: 3 Mar 2022, 10:46 a.m. | Last Modified: 3 Mar 2022, 10:46 a.m.

Panel Version: 2.15

After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.

Created: 3 Mar 2022, 10:46 a.m. | Last Modified: 3 Mar 2022, 10:46 a.m.

Panel Version: 2.15

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

Created: 2 Dec 2019, 1:28 p.m. | Last Modified: 2 Dec 2019, 1:28 p.m.

Panel Version: 1.45

Green List (high evidence)

On CGGl Royal Brompton ACM panel due to high burden of arrhythmia's in TTNtv-related DCM

Created: 18 Sep 2019, 11:09 p.m. | Last Modified: 18 Sep 2019, 11:09 p.m.

Panel Version: 1.36

Phenotypes
OMIM 604145 Cardiomyopathy, dilated, 1G

Publications

• 30535219
• 31251381

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

Red List (low evidence)

Cardiomyopathy, dilated, 1G (604145); Cardiomyopathy, familial hypertrophic, 9 (613765) and others

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

PubMED: 29567486 - core gene. All missense on HGMD. Not for panel.

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

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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.

Red List (low evidence)

Comment when marking as ready: Some LOF variants relevant, but overwhelming number of benign missense variants

Created: 8 Feb 2016, 10:53 a.m.

Red List (low evidence)