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Paediatric or syndromic cardiomyopathy

Gene: TTN

Green List (high evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

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, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Rebecca Whittington (South West GLH)

Green List (high evidence)

Cardiomyopathy, dilated, 1G OMIM#604145; Cardiomyopathy, familial hypertrophic, 9 OMIM#613765; Muscular dystrophy, limb-girdle, autosomal recessive 10 OMIM#608807; Myopathy, proximal, with early respiratory muscle involvement#603689; Salih myopathy OMIM#611705; Tibial muscular dystrophy, tardive OMIM#600334
Created: 25 Mar 2019, 4:30 p.m.
Key cardiomyopathy gene and more phenotypes being investigated. Little evidence regarding variants in paediatric cardiomyopathy but main cardiac transcripts are present before birth. Some evidence in lab that variants in TTN can be assoc with paediatric cardiomyopathy. Pugh (2014) Genet Med 16, 601: 10% of paediatric cases had a likely pathogenic variant and 5% had a variant 'favouring pathogenic' in the TTN gene.
Created: 25 Mar 2019, 4:27 p.m.

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

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TTN.

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: TTN was added gene: TTN was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTN were set to Phenotypes for gene: TTN were set to Cardiomyopathy, familial hypertrophic, 9,; Cardiomyopathy, dilated, 1G