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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