| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Angelman Rett like syndromes v0.3 | ASXL3 | Zornitza Stark Phenotypes for gene: ASXL3 were changed from Bainbridge-Ropers syndrome (OMIM # 615485) to Bainbridge-Ropers syndrome (OMIM # 615485) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.3 | ASXL3 | Zornitza Stark Marked gene: ASXL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.3 | ASXL3 | Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.3 | ASXL3 | Zornitza Stark Phenotypes for gene: ASXL3 were changed from to Bainbridge-Ropers syndrome (OMIM # 615485) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.2 | ASXL3 | Zornitza Stark Publications for gene: ASXL3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.1 | ASXL3 | Zornitza Stark Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.0 | ASXL3 | Zornitza Stark reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100473, 27901041, 23383720; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.0 | ASXL3 |
Zornitza Stark gene: ASXL3 was added gene: ASXL3 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ASXL3 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||