Lymphoedema_syndromic
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
-
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert Review Red
- Phenotypes
-
- Amyloidosis, hereditary, transthyretin-related 105210
- Carpal tunnel syndrome, familial 115430
- Dystransthyretinemic hyperthyroxinemia 145680
- 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
29 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sue White (Victorian Clinical Genetics Services)gene: TTR was added gene: TTR was added to Lymphoedema_syndromic. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTR were set to 31118583; 30120737; 31131842; 31111153; 30878017 Phenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related 105210; Carpal tunnel syndrome, familial 115430; Dystransthyretinemic hyperthyroxinemia 145680