Arrhythmogenic right ventricular cardiomyopathy
Gene: TTNThis 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
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
On CGGl Royal Brompton ACM panel due to high burden of arrhythmia's in TTNtv-related DCMCreated: 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
Variants in this GENE are reported as part of current diagnostic practice
Cardiomyopathy, dilated, 1G (604145); Cardiomyopathy, familial hypertrophic, 9 (613765) and othersCreated: 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
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.
Comment when marking as ready: Some LOF variants relevant, but overwhelming number of benign missense variantsCreated: 8 Feb 2016, 10:53 a.m.
Tag for-review was removed from gene: TTN.
Publications for gene: TTN were set to 30535219; 31251381
Tag for-review tag was added to gene: TTN.
Phenotypes for gene: TTN were changed from to Cardiomyopathy, dilated, 1G, 604145
Publications for gene: TTN were set to
Source South West GLH was added to TTN. Mode of inheritance for gene TTN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source London South GLH was added to TTN.
This gene has been classified as Red List (Low Evidence).
TTN was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Expert list