Dilated Cardiomyopathy

Gene: TTN

Green List (high evidence)

DEFINITIVE by ClinGen.

Created: 18 May 2021, 3:51 a.m. | Last Modified: 18 May 2021, 3:51 a.m.

Panel Version: 0.126

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, dilated, 1G, MIM#604145

Publications

• 22335739
• 33947203

Green List (high evidence)

NM_001267550.1: predominant in ClinVar and described as the gold standard for describing TTN variants

Unknown significance from missense in DCM

PTC mechanism - Likely dominant negative as not all truncated transcripts in DCM undergo NMD (RNAseq and protein studies by Roberts, AM. et al. (2015)).

Incomplete penetrance of PTC variants in DCM

Created: 29 Mar 2020, 8:46 p.m. | Last Modified: 29 Mar 2020, 8:46 p.m.

Panel Version: 0.22

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 1G, 604145; Cardiomyopathy, familial hypertrophic, 9, 613765; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807; (LGMDR10); Myopathy, myofibrillar, 9, with early respiratory failure, 603689; Salih myopathy, 611705; Tibial muscular dystrophy, tardive, 600334

Publications

• PMID: 25589632
• 28045975