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Pain syndromes

Gene: TTR

Green List (high evidence)
TTR (transthyretin)
EnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 19 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hereditary amyloidosis
  • Amyloidosis, hereditary, transthyretin-related, 105210
  • Familial amyloid polyneuropathy
  • Carpal tunnel syndrome, familial, 115430
OMIM
176300
Clinvar variants
Variants in TTR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Hereditary amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210; Familial amyloid polyneuropathy; Carpal tunnel syndrome, familial, 115430 for gene: TTR

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TTR was added gene: TTR was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TTR were set to 14640030; 26800456; 12771253; 30120737; 16433699; 25069833; 30878017; 31111153; 31118583; 28678039; 19365058; 31131842; 8309582; The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. 8th ed.Benson, M. D. Amyloidosis. In: Scriver, C. R et al.: New York: McGraw-Hill . 2001; 3011930 Phenotypes for gene: TTR were set to Hereditary amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210; Familial amyloid polyneuropathy; Carpal tunnel syndrome, familial, 115430