Genomics England

transthyretin

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Amyloidosis R-numbers: R204 Signed-off version 1.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Amyloidosis, hereditary, transthyretin-related 105210
Green in Cardiomyopathies - including childhood onset R-numbers: R135 Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes syndromic HCM
Green in Hereditary neuropathy NOT PMP22 copy number R-numbers: R78 Signed-off version 2.1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Amyloidosis, hereditary, transthyretin-related, 105210, FAP, Cardiomyopathy
Green in Hyperthyroidism R-numbers: R182 Signed-off version 3.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes [Dystransthyretinemic hyperthyroxinemia], 145680, DTTRH
Green in Hypertrophic cardiomyopathy - teen and adult Component of the following Super Panels: - Sudden unexplained death or survivors of a cardiac event R-numbers: R131 Signed-off version 3.1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cardiac amyloidosis, Amyloidosis, hereditary, transthyretin-related, 105210
Green in Progressive cardiac conduction disease Component of the following Super Panels: - Sudden unexplained death or survivors of a cardiac event R-numbers: R328 Signed-off version 2.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Heart conduction disease, MONDO:0000992