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Likely inborn error of metabolism v5.3 MRM2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: MRM2.
Likely inborn error of metabolism v5.3 MRM2 Sarah Leigh edited their review of gene: MRM2: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v5.2 MRM2 Achchuthan Shanmugasundram Source Expert Review Green was added to MRM2.
Source NHS GMS was added to MRM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v4.60 MRM2 Sarah Leigh Publications for gene: MRM2 were set to 28973171
Likely inborn error of metabolism v4.59 MRM2 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: MRM2.
Likely inborn error of metabolism 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 v4.59 MRM2 Sarah Leigh Classified gene: MRM2 as Amber List (moderate evidence)
Likely inborn error of metabolism 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 v4.59 MRM2 Sarah Leigh Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism 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 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 v1.406 MRM2 Catherine Snow commented on gene: MRM2
Likely inborn error of metabolism 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