Dilated Cardiomyopathy and conduction defects

Gene: TTR

Red List (low evidence)

TTR (transthyretin)
EnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 16 panels

2 reviews

Rebecca Whittington (South West GLH)

I don't know

Amyloidosis, hereditary, transthyretin-related OMIM#105210; Carpal tunnel syndrome, familial OMIM#115430;[Dystransthyretinemic hyperthyroxinemia] OMIM#145680
Created: 25 Mar 2019, 4:30 p.m.
Usually more LVH asssociated with late onset amyeloidosis but in our patient the TTN variant may have modifying the phenotype. Many pathogenic variants detected and some specifically with cardiac features: Iorio et al (2017) Eur J Hum Genet 25:1055.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

History Filter Activity

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 TTR. Mode of inheritance for gene TTR was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TTR was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Emory Genetics Laboratory