Activity
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6 actions
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| Likely inborn error of metabolism v8.34 | MRPL49 | Achchuthan Shanmugasundram Classified gene: MRPL49 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.34 | MRPL49 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of MRPL49 with combined oxidative phosphorylation deficiency phenotype. This gene is currently being recommended for promotion to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/MRPL49/). Hence, this gene can also be considered for promotion to green rating on this panel in the next GMS update. |
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| Likely inborn error of metabolism v8.34 | MRPL49 | Achchuthan Shanmugasundram Gene: mrpl49 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.33 | MRPL49 | Achchuthan Shanmugasundram reviewed gene: MRPL49: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.33 | MRPL49 | Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v9.17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.33 | MRPL49 |
Achchuthan Shanmugasundram gene: MRPL49 was added gene: MRPL49 was added to Likely inborn error of metabolism. Sources: Expert Review Amber,Literature Q2_25_ promote_green tags were added to gene: MRPL49. Mode of inheritance for gene: MRPL49 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPL49 were set to 40043708 Phenotypes for gene: MRPL49 were set to Combined oxidative phosphorylation deficiency 60, OMIM:621195; combined oxidative phosphorylation deficiency, MONDO:0000732 |
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