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Dilated Cardiomyopathy and conduction defects v1.55 TTR Rebecca Whittington commented on gene: TTR: Amyloidosis, hereditary, transthyretin-related OMIM#105210; Carpal tunnel syndrome, familial OMIM#115430;[Dystransthyretinemic hyperthyroxinemia] OMIM#145680
Dilated Cardiomyopathy and conduction defects v1.54 TTR Rebecca Whittington commented on gene: TTR: 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.
Dilated Cardiomyopathy and conduction defects v1.53 TTR Rebecca Whittington reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.47 TTR Ellen McDonagh Source South West GLH was added to TTR.
Mode of inheritance for gene TTR was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted