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STRs in panel
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Inborn errors of metabolism

Gene: MGME1

Green List (high evidence)

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

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Mitochondrial DNA depletion syndrome 11, 615084
  • Disorders of mitochondrial DNA maintenance and integrity
OMIM
615076
Clinvar variants
Variants in MGME1
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Mitochondrial DNA depletion syndrome 11, 615084; Disorders of mitochondrial DNA maintenance and integrity for gene: MGME1

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MGME1 was added gene: MGME1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MGME1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Mitochondrial DNA depletion syndrome 11, 615084; Disorders of mitochondrial DNA maintenance and integrity