Arrhythmogenic cardiomyopathy

Gene: TTN

Red List (low evidence)

TTN (titin)
EnsemblGeneIds (GRCh38): ENSG00000155657
EnsemblGeneIds (GRCh37): ENSG00000155657
OMIM: 188840, Gene2Phenotype
TTN is in 18 panels

7 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

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

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

Rebecca Whittington (South West GLH)

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

Ellen McDonagh (Genomics England Curator)

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.

Bill Newman (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Caroline Wright (Genomics England Curator)

Comment when marking as ready: Some LOF variants relevant, but overwhelming number of benign missense variants
Created: 8 Feb 2016, 10:53 a.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

History Filter Activity

2 Dec 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TTN were changed from to Cardiomyopathy, dilated, 1G, 604145

2 Dec 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TTN were set to

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

20 Feb 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to TTN.

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TTN was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Expert list