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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 |