Liver Failure_Paediatric
Gene: MRM2EnsemblGeneIds (GRCh38): ENSG00000122687
EnsemblGeneIds (GRCh37): ENSG00000122687
OMIM: 606906, Gene2Phenotype
MRM2 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.
Recurrent episodes of liver failure were part of the clinical course.
Sources: Expert listCreated: 3 Nov 2020, 5:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 17, MIM# 618567
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 17, MIM# 618567
- OMIM
- 606906
- Clinvar variants
- Variants in MRM2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MRM2 was added gene: MRM2 was added to Liver Failure_Paediatric. Sources: 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, MIM# 618567 Review for gene: MRM2 was set to AMBER