Lymphoedema_syndromic

Gene: TTR

Red List (low evidence)

TTR (transthyretin)
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

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