Activity
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8 actions
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| Likely inborn error of metabolism v8.27 | KIAA0391 | Achchuthan Shanmugasundram Classified gene: KIAA0391 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.27 | KIAA0391 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: KIAA0391 (PRORP) has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/KIAA0391/) as detailed in the below reviews copied from that panel. As there is sufficient evidence available for the gene-disease association, this gene can be promoted to green rating on this panel in the next GMS update. |
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| Likely inborn error of metabolism v8.27 | KIAA0391 | Achchuthan Shanmugasundram Gene: kiaa0391 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.26 | KIAA0391 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: KIAA0391. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.26 | KIAA0391 | Achchuthan Shanmugasundram reviewed gene: KIAA0391: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 54, OMIM:619737; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.26 | KIAA0391 | Achchuthan Shanmugasundram Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.26 | KIAA0391 | Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v9.16 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.26 | KIAA0391 |
Achchuthan Shanmugasundram gene: KIAA0391 was added gene: KIAA0391 was added to Likely inborn error of metabolism. Sources: Literature,NHS GMS,Expert Review Green new-gene-name tags were added to gene: KIAA0391. Mode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0391 were set to 34715011 Phenotypes for gene: KIAA0391 were set to Combined oxidative phosphorylation deficiency 54, OMIM:619737 |
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