Stroke
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
2 reviews
Natasha Brown (Victorian Clinical Genetics Services)
PMID: 12771253: 14 individuals from one family with oculoleptomeningeal amyloidosis, stroke like episodes, found p.Tyr69His - variable expression.
PMID: 32789836; 10 unrelated male patients all with cardiac amyloidosis, 7 patients had p.Phe53Leu, 2 had p.Glu109Lys and 1 had p.Ala101Val. One died from stroke.
PMID: 15377697: two Japanese brothers with familial leptomeningeal amyloidosis; p.Asp18Gly; same variant previously reported in one other case.
PMID: 18579156: Thr49Pro in a 53 year-old man presented with recurrent episodes of transient aphasia and right hand stiffness, headaches, and peripheral neuropathy.
Variants appear to be associated with leptomeningeal amyloidosis leading to vessel fragility and SAH riskCreated: 10 Mar 2021, 1:27 a.m. | Last Modified: 10 Mar 2021, 1:27 a.m.
Panel Version: 0.70
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Amyloidosis, hereditary, transthyretin-related, MIM# 105210
- 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
10 Mar 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ttr has been classified as Green List (High Evidence).
10 Mar 2021, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TTR were changed from Amyloidogenic transthyretin amyloidosis to Amyloidosis, hereditary, transthyretin-related, MIM# 105210
10 Mar 2021, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TTR were set to
22 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TTR was added gene: TTR was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TTR were set to Amyloidogenic transthyretin amyloidosis