Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Radial Ray Abnormalities v0.86 | RAD51 | Zornitza Stark Marked gene: RAD51 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.86 | RAD51 | Zornitza Stark Gene: rad51 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.86 | RAD51 | Zornitza Stark Classified gene: RAD51 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.86 | RAD51 | Zornitza Stark Gene: rad51 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.85 | RAD51 |
Zornitza Stark changed review comment from: Three unrelated individuals reported with de novo variants in this gene and FA phenotype. Sources: Expert Review; to: Three unrelated individuals reported with de novo variants in this gene and FA phenotype. However, only one had radial ray abnormalities. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.85 | RAD51 | Zornitza Stark edited their review of gene: RAD51: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.85 | RAD51 |
Zornitza Stark gene: RAD51 was added gene: RAD51 was added to Radial Ray Abnormalities. Sources: Expert Review Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAD51 were set to 26253028; 26681308; 30907510 Phenotypes for gene: RAD51 were set to Fanconi anaemia, complementation group R, MIM# 617244 Review for gene: RAD51 was set to GREEN Added comment: Three unrelated individuals reported with de novo variants in this gene and FA phenotype. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.47 | RAD51C | Zornitza Stark Marked gene: RAD51C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.47 | RAD51C | Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.47 | RAD51C | Zornitza Stark Phenotypes for gene: RAD51C were changed from to Fanconi anemia, complementation group O, MIM# 613390 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.46 | RAD51C | Zornitza Stark Publications for gene: RAD51C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.45 | RAD51C | Zornitza Stark Mode of inheritance for gene: RAD51C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.44 | RAD51C | Zornitza Stark reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: None; Publications: 29278735, 20400963; Phenotypes: Fanconi anemia, complementation group O, MIM# 613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.0 | RAD51C |
Zornitza Stark gene: RAD51C was added gene: RAD51C was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAD51C was set to Unknown |