Possible mitochondrial disorder - nuclear genes
Gene: MGME1
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 11, 615084
Publications
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.
gene: MGME1 was added gene: MGME1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MGME1 were set to 23313956 Phenotypes for gene: MGME1 were set to Mitochondrial DNA depletion syndrome 11, 615084