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Cardiomyopathy_Paediatric

Gene: TTR

Green List (high evidence)

TTR (transthyretin)
EnsemblGeneIds (GRCh38): ENSG00000118271
EnsemblGeneIds (GRCh37): ENSG00000118271
OMIM: 176300, Gene2Phenotype
TTR is in 19 panels

2 reviews

Seb Lunke (Victorian Clinical Genetics Services)

Comment when marking as ready: Can present predominantly with HCM
Created: 29 Jul 2020, 6:53 a.m. | Last Modified: 29 Jul 2020, 6:53 a.m.
Panel Version: 0.134

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

Associated with a syndrome but apparently phenocopies HCM. Green on PanelApp GEL, curated for syndromes by ClinGen. I'm not sure if this belongs in this panel.

Screening of the gene in patients with HCM revealed lack of evidence for an amyloidosis phenotype in all but one (of four) TTR variant carrier (PMID: 31554435).
Created: 29 Jul 2020, 4:46 a.m. | Last Modified: 29 Jul 2020, 4:46 a.m.
Panel Version: 0.89

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyloidosis, hereditary, transthyretin-related MIM#105210

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

28 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TTR was added gene: TTR was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,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 31118583; 31131842; 31111153; 30878017; 30120737 Phenotypes for gene: TTR were set to syndromic HCM