Possible mitochondrial disorder - nuclear genes
Gene: MRM2EnsemblGeneIds (GRCh38): ENSG00000122687
EnsemblGeneIds (GRCh37): ENSG00000122687
OMIM: 606906, Gene2Phenotype
MRM2 is in 3 panels
6 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 4 Dec 2024, 11:42 a.m. | Last Modified: 4 Dec 2024, 11:42 a.m.
Panel Version: 3.113
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
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
Hannah Knight (NIHR BioResource - University of Cambridge)
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
Carl Fratter (Oxford University Hospitals NHS Trust)
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
Ellen McDonagh (Genomics England Curator)
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.
Ivone Leong (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- ?Mitochondrial DNA depletion syndrome 17, OMIM:618567
- OMIM
- 606906
- Clinvar variants
- Variants in MRM2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: MRM2. Tag Q4_23_NHS_review was removed from gene: MRM2.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to MRM2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q4_23_promote_green tag was added to gene: MRM2. Tag Q4_23_NHS_review tag was added to gene: MRM2.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: MRM2 were set to 28973171
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MRM2 were changed from No OMIM phenotype to ?Mitochondrial DNA depletion syndrome 17, OMIM:618567
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)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