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Amyloidosis

Gene: TTR

Green List (high evidence)

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

The kidney is one of the main organs affected by transthyretin amyloidosis.
Sources: Literature
Created: 10 Sep 2024, 7:11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hereditary ATTR amyloidosis MONDO:0017132

Publications

Variants in this GENE are reported as part of current diagnostic practice

Manny Jacobs (Victorian Clinical Genetics Services)

Green List (high evidence)

Being a syndrome, individuals with TTR- related amyloidosis can present with multi-systemic phenotypes including, polyneuropathy, carpal tunnel syndrome, cardiomyopathy, gastrointestinal features, autonomic insufficiency, and renal insufficiency.

The mechanism for disease is gain of function, as mutation causes either tetramer dissociation or monomer denaturation, which both contribute to the formation of amyloid fibrils in tissue (Sekijima, 2015; PMID 25604431). All reported variants in affected individuals are missense.

Some individuals with Hereditary ATTR amyloidosis present with features of hypertrophic cardiomyopathy (HCM) and/or restrictive cardiomyopathy (RCM)... Several variants including TTR-V30M, TTR-T60A, and TTR-V122L are the most commonly associated with cardiac amyloidosis (Siddiqi and Ruberg, 2017 PMID 28739313).

For the neuropathy sub-phenotype, the current literature provides additional evidence including further neuropathy cases associated to various TTR mutations such as p.Val50Met (PMIDs: 8071954, 19180884, 24101130) and p.Leu75Pro (1351039, 7910950, 31319424)
Created: 30 Mar 2022, 10:55 p.m. | Last Modified: 30 Mar 2022, 10:55 p.m.
Panel Version: 0.12323

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyloidosis, hereditary, transthyretin-related, MIM #105210; Carpal tunnel syndrome, familial, MIM# 115430

Publications

Mode of pathogenicity
Other

History Filter Activity

10 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ttr has been classified as Green List (High Evidence).

10 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ttr has been classified as Green List (High Evidence).

10 Sep 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TTR was added gene: TTR was added to Renal Amyloidosis. Sources: Literature Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTR were set to 20301373; 38484868 Phenotypes for gene: TTR were set to hereditary ATTR amyloidosis MONDO:0017132 Review for gene: TTR was set to GREEN gene: TTR was marked as current diagnostic