Possible mitochondrial disorder - nuclear genes
Gene: MRM2
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: 3.54
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 7 Nov 2023, 2:02 p.m. | Last Modified: 7 Nov 2023, 2:02 p.m.
Panel Version: 3.54
Two new families reported with six patients homozygous for two different novel variants (PMID: 36002240)Created: 23 Aug 2023, 10:52 a.m. | Last Modified: 23 Aug 2023, 10:52 a.m.
Panel Version: 3.48
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial DNA depletion syndrome 17
Publications
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
No OMIM phenotype
Publications
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.Created: 29 Mar 2019, 4:35 p.m.
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: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
No OMIM phenotype
Publications
Tag Q4_23_promote_green tag was added to gene: MRM2. Tag Q4_23_NHS_review tag was added to gene: MRM2.
Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Publications for gene: MRM2 were set to 28973171
Phenotypes for gene: MRM2 were changed from No OMIM phenotype to ?Mitochondrial DNA depletion syndrome 17, OMIM:618567
Gene: mrm2 has been classified as Amber List (Moderate Evidence).
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