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Possible mitochondrial disorder, nuclear genes v3.113 MRM2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: MRM2.
Tag Q4_23_NHS_review was removed from gene: MRM2.
Possible mitochondrial disorder, nuclear genes v3.113 MRM2 Achchuthan Shanmugasundram reviewed gene: MRM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v3.112 MRM2 Achchuthan Shanmugasundram Source Expert Review Green was added to MRM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v3.54 MRM2 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: MRM2.
Tag Q4_23_NHS_review tag was added to gene: MRM2.
Possible mitochondrial disorder, nuclear genes v3.54 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
Possible mitochondrial disorder, nuclear genes v3.54 MRM2 Sarah Leigh Classified gene: MRM2 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v3.54 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.
Possible mitochondrial disorder, nuclear genes v3.54 MRM2 Sarah Leigh Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v3.53 MRM2 Sarah Leigh Publications for gene: MRM2 were set to 28973171
Possible mitochondrial disorder, nuclear genes v3.48 MRM2 Hannah Knight reviewed gene: MRM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36002240; Phenotypes: ?Mitochondrial DNA depletion syndrome 17; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v1.47 MRM2 Arina Puzriakova Phenotypes for gene: MRM2 were changed from No OMIM phenotype to ?Mitochondrial DNA depletion syndrome 17, OMIM:618567
Possible mitochondrial disorder, nuclear genes v0.134 MRM2 Carl Fratter reviewed gene: MRM2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28973171; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v0.114 MRM2 Ellen McDonagh Classified gene: MRM2 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.114 MRM2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151). PMID:28973171 describes one patient and functional evidence - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.114 MRM2 Ellen McDonagh Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.5 MRM2 Ivone Leong reviewed gene: MRM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28973171; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v0.2 MRM2 Ivone Leong gene: MRM2 was added
gene: MRM2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
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 No OMIM phenotype