Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.47 | MPV17 |
Ivone Leong Source NHS GMS was added to MPV17. Source London North GLH was added to MPV17. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | MPV17 | Ellen McDonagh Added phenotypes Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3 for gene: MPV17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | MPV17 |
Ellen McDonagh gene: MPV17 was added gene: MPV17 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPV17 were set to 27604308 Phenotypes for gene: MPV17 were set to Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||