Incidentalome
Gene: TNNT2
DEFINITIVE by ClinGen for DCM and HCM, multiple families, functional data. The p.Lys210del variant is a recurrent pathogenic variant.Created: 18 May 2021, 3:48 a.m. | Last Modified: 12 Aug 2022, 1:56 a.m.
Panel Version: 0.160
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, dilated, 1D, MIM# 601494; Cardiomyopathy, hypertrophic, 2, MIM# 115195; Cardiomyopathy, familial restrictive, 3, MIM# 612422; Left ventricular noncompaction 6, MIM# 601494
Publications
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
Tag cardiac tag was added to gene: TNNT2.
Gene: tnnt2 has been classified as Green List (High Evidence).
Phenotypes for gene: TNNT2 were changed from to Cardiomyopathy, dilated, 1D, MIM# 601494; Cardiomyopathy, hypertrophic, 2, MIM# 115195; Cardiomyopathy, familial restrictive, 3, MIM# 612422; Left ventricular noncompaction 6, MIM# 601494
Publications for gene: TNNT2 were set to
Mode of inheritance for gene: TNNT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: TNNT2 was added gene: TNNT2 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TNNT2 was set to Unknown