Cardiomyopathy_Paediatric
Gene: TTRComment when marking as ready: Can present predominantly with HCMCreated: 29 Jul 2020, 6:53 a.m. | Last Modified: 29 Jul 2020, 6:53 a.m.
Panel Version: 0.134
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
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