Transplant Co-Morbidity Superpanel
Gene: TTR
TTR (transthyretin)
EnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 19 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Amyloidosis, hereditary, transthyretin-related MIM#105210
- OMIM
- 176300
- Clinvar variants
- Variants in TTR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Stroke
- 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
- Additional findings_Adult
- Amyloidosis
- Mendeliome
- Hereditary Spastic Paraplegia - paediatric
- Cerebral amyloid angiopathy
- Pain syndromes
- Hypertrophic cardiomyopathy_HCM
History Filter Activity
1 Aug 2023, Gel status: 3
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 Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTR were set to 28475415; 35802134; 31554435 Phenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related MIM#105210