Genomics England

TTR

transthyretin

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Amyloidosis, hereditary, transthyretin-related, OMIM:105210, familial amyloid neuropathy, MONDO:0007100
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 6.6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Amyloidosis, hereditary, transthyretin-related, OMIM:105210, Carpal tunnel syndrome, familial, OMIM:115430
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 5.16	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Amyloidosis, hereditary, transthyretin-related, 105210, FAP, Cardiomyopathy
Green in Hereditary systemic amyloidosis Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R204 Signed-off version 1.22	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Amyloidosis, hereditary, transthyretin-related 105210
Green in Hyperthyroidism R-numbers: R182 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes [Dystransthyretinemic hyperthyroxinemia], 145680, DTTRH
Green in Hypertrophic cardiomyopathy Component of the following Super Panels: - Sudden unexplained death or survivors of a cardiac event - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R131 Signed-off version 4.16	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cardiac amyloidosis, Amyloidosis, hereditary, transthyretin-related, 105210
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 5.13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes syndromic HCM
Green in Progressive cardiac conduction disease Component of the following Super Panels: - Sudden unexplained death or survivors of a cardiac event - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R328 Signed-off version 2.9	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Heart conduction disease, MONDO:0000992