Rhabdomyolysis and Metabolic Myopathy

Gene: MGME1

Green List (high evidence)

MGME1 (mitochondrial genome maintenance exonuclease 1)
EnsemblGeneIds (GRCh38): ENSG00000125871
EnsemblGeneIds (GRCh37): ENSG00000125871
OMIM: 615076, Gene2Phenotype
MGME1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mitochondrial DNA depletion syndrome-11 is an autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities. Three unrelated families, mouse model.
Created: 18 May 2022, 7:18 a.m. | Last Modified: 18 May 2022, 7:18 a.m.
Panel Version: 0.810

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 11, MIM# 615084

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • mitochondrial DNA depletion syndrome 11 MONDO:0014039
OMIM
615076
Clinvar variants
Variants in MGME1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mgme1 has been classified as Green List (High Evidence).

15 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mgme1 has been classified as Green List (High Evidence).

14 Apr 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MGME1 was added gene: MGME1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MGME1 were set to 23313956; 29572490; 28711739 Phenotypes for gene: MGME1 were set to mitochondrial DNA depletion syndrome 11 MONDO:0014039