Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Severe Paediatric Disorders v0.17 | ACTA2 | Louise Daugherty Mode of inheritance for gene ACTA2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | ACTA2 | Louise Daugherty reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | ACTA2 | Louise Daugherty Publications for gene ACTA2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | ACTA2 | Louise Daugherty Added phenotypes Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5, 614042; Aortic aneurysm, familial thoracic 6, 611788 for gene: ACTA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | ACTA2 | Louise Daugherty Added phenotypes Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5, 614042; Aortic aneurysm, familial thoracic 6, 611788 for gene: ACTA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | ACTA2 | Louise Daugherty Added phenotypes Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5, 614042; Aortic aneurysm, familial thoracic 6, 611788 for gene: ACTA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | ACTA2 | Louise Daugherty Added phenotypes Aortic aneurysm, familial thoracic 6, 611788; Moyamoya disease 5, 614042; Multisystemic smooth muscle dysfunction syndrome, 613834 for gene: ACTA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | ACTA2 | Louise Daugherty Source Next Generation Children Project was added to ACTA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | ACTA2 |
Louise Daugherty Source Expert Review Green was added to ACTA2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.4 | ACTA2 |
Louise Daugherty gene: ACTA2 was added gene: ACTA2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ACTA2 was set to |