Cardiomyopathy_Paediatric
Gene: TNNT2EnsemblGeneIds (GRCh38): ENSG00000118194
EnsemblGeneIds (GRCh37): ENSG00000118194
OMIM: 191045, Gene2Phenotype
TNNT2 is in 9 panels
1 review
Ivan Macciocca (Victorian Clinical Genetics Services)
DEFINITIVE by ClinGen HCM working group PMID: 30681346Created: 19 Jun 2020, 2:36 p.m. | Last Modified: 19 Jun 2020, 2:36 p.m.
Panel Version: 0.28
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
HCM; LVNC; RCM; DCM
Publications
- PMID: 30681346
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- London South GLH
- South West GLH
- NHS GMS
- Phenotypes
-
- Cardiomyopathy, dilated, 1D
- Cardiomyopathy, familial hypertrophic, 2
- Hypertrophic cardiomyopathy
- Left ventricular noncompaction 6,
- OMIM
- 191045
- Clinvar variants
- Variants in TNNT2
- Penetrance
- None
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TNNT2 was added gene: TNNT2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNT2 were set to Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial hypertrophic, 2; Hypertrophic cardiomyopathy; Left ventricular noncompaction 6,