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Inborn errors of metabolism

Gene: MRM2

Amber List (moderate evidence)

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

1 review

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • ?Mitochondrial DNA depletion syndrome 17, 618567
OMIM
606906
Clinvar variants
Variants in MRM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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