Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Paediatric disorders - additional genes v0.36 | ACTC1 | Ellen McDonagh Classified gene: ACTC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.36 | ACTC1 | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green as this gene is on multiple cardio version 1+ panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.36 | ACTC1 | Ellen McDonagh Gene: actc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.35 | ACTC1 | Ellen McDonagh Marked gene: ACTC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.35 | ACTC1 | Ellen McDonagh Gene: actc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.35 | ACTC1 | Ellen McDonagh reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Atrial septal defect 5, Cardiomyopathy, dilated, 1R, Cardiomyopathy, hypertrophic, 11, Left ventricular noncompaction 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.34 | ACTC1 |
Ellen McDonagh gene: ACTC1 was added gene: ACTC1 was added to Paediatric disorders - additional genes. Sources: South West GLH Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTC1 were set to Atrial septal defect 5; Cardiomyopathy, hypertrophic, 11; Cardiomyopathy, dilated, 1R; Left ventricular noncompaction 4 |