Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Adult onset dystonia, chorea or related movement disorder v1.52 | GTPBP2 | Arina Puzriakova Phenotypes for gene: GTPBP2 were changed from Jaberi-Elahi syndrome, 617988; Dystonia to Jaberi-Elahi syndrome, OMIM:617988 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.120 | GTPBP2 | Louise Daugherty Mode of inheritance for gene: GTPBP2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.120 | GTPBP2 | Louise Daugherty Mode of inheritance for gene: GTPBP2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.119 | GTPBP2 | Louise Daugherty Phenotypes for gene: GTPBP2 were changed from to Jaberi-Elahi syndrome, 617988; Dystonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.84 | GTPBP2 | Louise Daugherty Classified gene: GTPBP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.84 | GTPBP2 | Louise Daugherty Gene: gtpbp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.54 | GTPBP2 | Louise Daugherty reviewed gene: GTPBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.53 | GTPBP2 | James Polke reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.52 | GTPBP2 | Louise Daugherty Source NHS GMS was added to GTPBP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.51 | GTPBP2 |
Louise Daugherty gene: GTPBP2 was added gene: GTPBP2 was added to Adult onset movement disorder. Sources: London North GLH Mode of inheritance for gene: GTPBP2 was set to |