Mitochondrial disorders
Gene: MRM2
Single individual reported plus functional data. MRM2 encodes an enzyme responsible for 2'-O-methyl modification at position U1369 in the human mitochondrial 16S rRNA.Created: 21 Mar 2020, 6:51 a.m. | Last Modified: 21 Mar 2020, 6:51 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MELAS-like
Publications
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).Created: 7 Nov 2023, 2:28 p.m. | Last Modified: 7 Nov 2023, 2:28 p.m.
Panel Version: 4.103
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 7 Nov 2023, 2:18 p.m. | Last Modified: 7 Nov 2023, 2:18 p.m.
Panel Version: 4.103
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412
Publications for gene: MRM2 were set to 28973171
Tag Q4_23_promote_green tag was added to gene: MRM2.
Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: MRM2 were changed from No OMIM phenotype to ?Mitochondrial DNA depletion syndrome 17, OMIM:618567
gene: MRM2 was added gene: MRM2 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber 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