Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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) |