Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.47 | APTX |
Ivone Leong Source NHS GMS was added to APTX. Source London North GLH was added to APTX. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | APTX | Ellen McDonagh Added phenotypes Ataxia with oculomotor apraxia 1; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920; Disorders of ubiquinone metabolism and biosynthesis for gene: APTX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | APTX |
Ellen McDonagh gene: APTX was added gene: APTX was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APTX were set to 27604308 Phenotypes for gene: APTX were set to Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Ataxia with oculomotor apraxia 1; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920; Disorders of ubiquinone metabolism and biosynthesis |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||