Mitochondrial disorders
Gene: MGME1

MGME1 (mitochondrial genome maintenance exonuclease 1)
EnsemblGeneIds (GRCh38): ENSG00000125871
EnsemblGeneIds (GRCh37): ENSG00000125871
OMIM: 615076, Gene2Phenotype
MGME1 is in 6 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:31 a.m.

Panel version: 0.37

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Both reviewers agree this gene should be promoted from red to green.

Created: 10 Feb 2016, 12:39 p.m.

Comment on mode of inheritance: Confirmed on OMIM.
Created: 10 Feb 2016, 12:38 p.m.

This gene was submitted as "MGME" by an expert, which is likely to correspond to this HGNC-approved symbol.
Created: 1 Jul 2015, 10:49 a.m.

Created: 1 Jul 2015, 10:49 a.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Green
Radboud University Medical Center, Nijmegen
Expert list
Expert

Phenotypes

Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Disorders of mitochondrial DNA maintenance and integrity
Mitochondrial DNA depletion syndrome 11, 615084

OMIM

615076

Clinvar variants

Variants in MGME1

Penetrance

Complete

Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to MGME1. Panel: Mitochondrial disorders

10 Feb 2016, Gel status: 4