| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hereditary ataxia with onset in adulthood v1.9 | APTX | Louise Daugherty Added phenotypes Early onset ataxia with oculomotor apraxia and hypoalbuminemia for gene: APTX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.8 | APTX | Louise Daugherty reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.7 | APTX | Tracy Lester reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Early onset ataxia with oculomotor apraxia and hypoalbuminemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.2 | APTX | Louise Daugherty Source NHS GMS was added to APTX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.1 | APTX | Louise Daugherty Source Wessex and West Midlands GLH was added to APTX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.2 | APTX |
Eleanor Williams gene: APTX was added gene: APTX was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APTX were set to Ataxia with Oculomotor Apraxia; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||