Activity
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6 actions
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| Possible mitochondrial disorder - nuclear genes v4.17 | MRPL39 | Ida Ertmanska reviewed gene: MRPL39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v4.16 | MRPL39 | Ida Ertmanska Tag Q3_24_promote_green was removed from gene: MRPL39. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v4.16 | MRPL39 |
Ida Ertmanska Source Expert Review Green was added to MRPL39. Source NHS GMS was added to MRPL39. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Possible mitochondrial disorder - nuclear genes v3.111 | MRPL39 | Achchuthan Shanmugasundram Tag Q3_24_NHS_review was removed from gene: MRPL39. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v3.111 | MRPL39 | Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v8.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v3.111 | MRPL39 |
Achchuthan Shanmugasundram gene: MRPL39 was added gene: MRPL39 was added to Possible mitochondrial disorder - nuclear genes. Sources: Literature,Expert Review Amber Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: MRPL39. Mode of inheritance for gene: MRPL39 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPL39 were set to 37133451 Phenotypes for gene: MRPL39 were set to Combined oxidative phosphorylation deficiency 59, OMIM:620646 |
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