Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Dilated Cardiomyopathy and conduction defects v1.55 TPM1 Rebecca Whittington commented on gene: TPM1: Cardiomyopathy, dilated, 1Y OMIM#611878; Cardiomyopathy, hypertrophic, 3 OMIM#115196; Left ventricular noncompaction 9 OMIM#611878
Dilated Cardiomyopathy and conduction defects v1.54 TPM1 Rebecca Whittington commented on gene: TPM1: GMD: 10/27 variants assoc with DCM classed as DM with some functional studies. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.53 TPM1 Rebecca Whittington reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.47 TPM1 Ellen McDonagh Source South West GLH was added to TPM1.
Mode of inheritance for gene TPM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects v1.46 TPM1 Ellen McDonagh reviewed gene: TPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.45 TPM1 Ellen McDonagh Source London South GLH was added to TPM1.
Dilated Cardiomyopathy and conduction defects v1.44 TPM1 James Eden reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1Y (611878), Cardiomyopathy, hypertrophic, 3 (115196), Left ventricular noncompaction 9 ( 611878); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.43 TPM1 Ellen McDonagh Source North West GLH was added to TPM1.
Added phenotypes Left ventricular noncompaction 9 ( 611878); Cardiomyopathy, hypertrophic, 3 (115196); Cardiomyopathy, dilated, 1Y (611878) for gene: TPM1
Publications for gene TPM1 were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)