Activity
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13 actions
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| Mitochondrial disorders v8.9 | MRPL39 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: MRPL39. Tag Q3_24_NHS_review was removed from gene: MRPL39. |
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| Mitochondrial disorders v8.9 | MRPL39 | Sarah Leigh reviewed gene: MRPL39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.8 | MRPL39 |
Sarah Leigh Source NHS GMS was added to MRPL39. Source Expert Review Green was added to MRPL39. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Mitochondrial disorders v8.4 | MRPL39 | Achchuthan Shanmugasundram Classified gene: MRPL39 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.4 | MRPL39 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are three unrelated patients reported to be presenting with multisystem diseases with severity ranging from lethal, infantile-onset (Leigh syndrome spectrum) to milder with survival into adulthood. Two of these patients with more severe infantile-onset disease were identified with compound heterozygous frameshift variants in MRPL39 gene, while the third patient with milder disease was homozygous for a missense variant. There is also functional evidence available from patient fibroblasts. As there is sufficient evidence available for the association of this gene with mitochondrial disease, this gene should be recommended for promotion to green rating in the next GMS update. |
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| Mitochondrial disorders v8.4 | MRPL39 | Achchuthan Shanmugasundram Gene: mrpl39 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.3 | MRPL39 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotype in OMIM (MIM #620646), but not yet in Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.3 | MRPL39 | Achchuthan Shanmugasundram Phenotypes for gene: MRPL39 were changed from Combined oxidative phosphorylation deficiency 59 to Combined oxidative phosphorylation deficiency 59, OMIM:620646 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.2 | MRPL39 | Achchuthan Shanmugasundram Publications for gene: MRPL39 were set to 37133451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.2 | MRPL39 | Achchuthan Shanmugasundram Publications for gene: MRPL39 were set to PMID: 37133451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.1 | MRPL39 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MRPL39. Tag Q3_24_NHS_review tag was added to gene: MRPL39. |
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| Mitochondrial disorders v8.1 | MRPL39 | Achchuthan Shanmugasundram reviewed gene: MRPL39: Rating: GREEN; Mode of pathogenicity: None; Publications: 37133451; Phenotypes: Combined oxidative phosphorylation deficiency 59, OMIM:620646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v7.4 | MRPL39 |
Hannah Knight gene: MRPL39 was added gene: MRPL39 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: MRPL39 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPL39 were set to PMID: 37133451 Phenotypes for gene: MRPL39 were set to Combined oxidative phosphorylation deficiency 59 Review for gene: MRPL39 was set to GREEN Added comment: PMID: 37133451 (2023) describe three patients with biallelic variants in MRPL39 and paediatric onset mitochondrial disease. Three frameshift variants and one missense variant reported Sources: Literature |
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