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Prepair 1000+

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

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

OMIM: 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 (summary by Kornblum et al., 2013).
Created: 11 Oct 2024, 4:13 a.m. | Last Modified: 11 Oct 2024, 4:13 a.m.
Panel Version: 1.390

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 11 MIM#615084

Created: 11 Oct 2024, 4:13 a.m.
Last Modified: 11 Oct 2024, 4:13 a.m.
Panel version: 1.390

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial DNA depletion syndrome 11, MIM#615084
OMIM
615076
Clinvar variants
Variants in MGME1
Penetrance
None
Panels with this gene

History Filter Activity

11 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MGME1 were changed from Mitochondrial DNA depletion syndrome 11, 615084 (3) to Mitochondrial DNA depletion syndrome 11, MIM#615084

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MGME1 was added gene: MGME1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MGME1 were set to Mitochondrial DNA depletion syndrome 11, 615084 (3)