Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Dilated and arrhythmogenic cardiomyopathy v0.52 ACTC1 Ivone Leong reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.51 ACTC1 Ivone Leong Source Expert Review Green was added to ACTC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.44 ACTC1 Matthew Edwards reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.7 ACTC1 Ellen McDonagh Classified gene: ACTC1 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v0.7 ACTC1 Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Dilated and arrhythmogenic cardiomyopathy v0.7 ACTC1 Ellen McDonagh Gene: actc1 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v0.0 ACTC1 Ellen McDonagh gene: ACTC1 was added
gene: ACTC1 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTC1 were set to 26061005; 27532257
Phenotypes for gene: ACTC1 were set to Cardiomyopathy, hypertrophic, 11 (612098); Left ventricular noncompaction 4 (613424); Cardiomyopathy, dilated, 1R (613424); Cardiomyopathy, dilated, 1R; Atrial septal defect 5 (612794)