Amyloidosis
Gene: TTREnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 19 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
The kidney is one of the main organs affected by transthyretin amyloidosis.
Sources: LiteratureCreated: 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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- hereditary ATTR amyloidosis MONDO:0017132
- OMIM
- 176300
- Clinvar variants
- Variants in TTR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Stroke
- Additional findings_Adult
- Hyperthyroidism
- Cardiomyopathy_Paediatric
- Hereditary Neuropathy - complex
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Regression
- Early-onset Dementia
- Additional findings_Paediatric
- Amyloidosis
- Mendeliome
- Hereditary Spastic Paraplegia - paediatric
- Cerebral amyloid angiopathy
- Pain syndromes
- Hypertrophic cardiomyopathy_HCM
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ttr has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ttr has been classified as Green List (High Evidence).
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