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  3. MRM2
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Likely inborn error of metabolism

Gene: MRM2

Green List (high evidence)
MRM2 (mitochondrial rRNA methyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000122687
EnsemblGeneIds (GRCh37): ENSG00000122687
OMIM: 606906, Gene2Phenotype
MRM2 is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 4 May 2024, 3:17 p.m. | Last Modified: 4 May 2024, 3:17 p.m.
Panel Version: 5.3
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: 4.59
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: 4.59

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 7 Nov 2023, 2:18 p.m.
Last Modified: 7 Nov 2023, 2:18 p.m.
Panel version: 5.3

Catherine Snow (Genomics England)

One proband identified in PMID: 28973171, OMIM entry currently based on this.
Created: 18 Nov 2019, 3:49 p.m. | Last Modified: 18 Nov 2019, 3:49 p.m.
Panel Version: 1.406
Created: 18 Nov 2019, 3:49 p.m.
Last Modified: 18 Nov 2019, 3:49 p.m.
Panel version: 1.406

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
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

4 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: MRM2.

4 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to MRM2. Source NHS GMS was added to MRM2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

7 Nov 2023, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MRM2 were set to 28973171

7 Nov 2023, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q4_23_promote_green tag was added to gene: MRM2.

7 Nov 2023, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: mrm2 has been classified as Amber List (Moderate Evidence).

21 Jun 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MRM2 were changed from ?Mitochondrial DNA depletion syndrome 17, 618567 to ?Mitochondrial DNA depletion syndrome 17, OMIM:618567

18 Nov 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Catherine Snow (Genomics England)

gene: MRM2 was added gene: MRM2 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list 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 ?Mitochondrial DNA depletion syndrome 17, 618567