Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Dystonia - complex v0.266 | GLB1 | Zornitza Stark Marked gene: GLB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dystonia - complex v0.266 | GLB1 | Zornitza Stark Gene: glb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dystonia - complex v0.266 | GLB1 | Zornitza Stark Phenotypes for gene: GLB1 were changed from Infantile GM1 gangliosidosis to GM1 gangliosidosis type 3 MONDO:0009262 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dystonia - complex v0.265 | GLB1 | Zornitza Stark Publications for gene: GLB1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dystonia - complex v0.254 | GLB1 | Sangavi Sivagnanasundram reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24156116, 35937492, 34514040, 1353343; Phenotypes: GM1 gangliosidosis type 3 MONDO:0009262; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dystonia - complex v0.0 | GLB1 |
Bryony Thompson gene: GLB1 was added gene: GLB1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLB1 were set to Infantile GM1 gangliosidosis |