Hypertrophic cardiomyopathy_HCM
Gene: TTREnsemblGeneIds (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 HCMCreated: 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)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Amyloidosis, hereditary, transthyretin-related MIM#105210
- Tags
- OMIM
- 176300
- Clinvar variants
- Variants in TTR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Stroke
- 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
- Additional findings_Adult
- Amyloidosis
- Mendeliome
- Hereditary Spastic Paraplegia - paediatric
- Cerebral amyloid angiopathy
- Pain syndromes
- Hypertrophic cardiomyopathy_HCM
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: TTR.
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: ttr has been classified as Green List (High Evidence).
Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related MIM#105210
Set publications
Seb Lunke (Victorian Clinical Genetics Services)Publications for gene: TTR were set to
Set mode of inheritance
Seb Lunke (Victorian Clinical Genetics Services)Mode of inheritance for gene: TTR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TTR was added gene: TTR was added to Hypertrophic cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TTR was set to Unknown