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| Likely inborn error of metabolism - targeted testing not possible v4.60 | MRM2 | Sarah Leigh Publications for gene: MRM2 were set to 28973171 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.59 | MRM2 | Sarah Leigh Tag Q4_23_promote_green tag was added to gene: MRM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.59 | MRM2 | Sarah Leigh edited their review of gene: MRM2: Added comment: MRM2 variants have been associated with ?Mitochondrial DNA depletion syndrome 17 (OMIM:618567), but not associated with phenotype in Gen2Phen. To date three biallelic MRM2 variants have been reported three unrelated cases (PMID: 28973171;36002240), supportive yeast functional studies have also been presented (PMID: 36002240).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.59 | MRM2 | Sarah Leigh Classified gene: MRM2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.59 | MRM2 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.59 | MRM2 | Sarah Leigh Gene: mrm2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.143 | MRM2 | Arina Puzriakova Phenotypes for gene: MRM2 were changed from ?Mitochondrial DNA depletion syndrome 17, 618567 to ?Mitochondrial DNA depletion syndrome 17, OMIM:618567 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.406 | MRM2 | Catherine Snow changed review comment from: One proband identified in PMID: 28973171, OMIM currently based on this.; to: One proband identified in PMID: 28973171, OMIM entry currently based on this. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.406 | MRM2 | Catherine Snow commented on gene: MRM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.406 | MRM2 |
Catherine Snow gene: MRM2 was added gene: MRM2 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: MRM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRM2 were set to 28973171 Phenotypes for gene: MRM2 were set to ?Mitochondrial DNA depletion syndrome 17, 618567 |
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