TTR

PanelMode of inheritanceDetails
6 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
R-numbers: R135
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
syndromic HCM
R-numbers: R78
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyloidosis, hereditary, transthyretin-related, 105210, FAP, Cardiomyopathy
R-numbers: R182
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
[Dystransthyretinemic hyperthyroxinemia], 145680, DTTRH
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
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