Mitochondrial disorders
Gene: MGME1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
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.
Victorian Clinical Genetics Services was added to MGME1. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for MGME1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 11, 615084
Mode of inheritance for MGME1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene MGME1 was changed to Unknown
MGME1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Model of inheritance for gene MGME1 was changed to Unknown
MGME1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
MGME1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen