Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.75 | COX18 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available (four unrelated families and functional studies) for the promotion of this gene to green rating in the next GMS update.; to: Comment on list classification: There is sufficient evidence available (four unrelated families and functional studies) in support of the association of this gene with mitochondrial disease. This gene should be considered for promotion to green rating on this panel as it has already been tagged for promotion to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/COX18/). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.75 | COX18 | Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v9.35 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.75 | COX18 |
Achchuthan Shanmugasundram gene: COX18 was added gene: COX18 was added to Likely inborn error of metabolism. Sources: NHS GMS,Expert Review Amber Q3_25_promote_green tags were added to gene: COX18. Mode of inheritance for gene: COX18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX18 were set to 37468577; 40830826 Phenotypes for gene: COX18 were set to mitochondrial disease, MONDO:0044970; Charcot-Marie-Tooth disease, MONDO:0015626 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||