Genomics England
GMS Panels
Panels
Genes and Entities

TTR

transthyretin
OMIM: 176300
PanelMode of inheritanceDetails
8 panels
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 8.30
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 1.30
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Amyloidosis, hereditary, transthyretin-related 105210
Green
in Hyperthyroidism
R-numbers: R182
Signed-off version 3.7
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 6.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiac amyloidosis, Amyloidosis, hereditary, transthyretin-related, 105210
Green
in Leukodystrophy, adult onset
R-numbers: R62
Signed-off version 7.8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Amyloidosis, hereditary, transthyretin-related, OMIM:105210, familial amyloid neuropathy, MONDO:0007100
Green
in Neurodegenerative disorders, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyloidosis, hereditary, transthyretin-related, OMIM:105210, Carpal tunnel syndrome, familial, OMIM:115430
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 8.4
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 2.17
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Heart conduction disease, MONDO:0000992