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  2. Congenital ophthalmoplegia
  3. MGME1
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Congenital ophthalmoplegia

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)

Onset in the first decade, and progressive external ophthalmoplegia is a prominent feature.
Sources: Expert list
Created: 11 Nov 2020, 7:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 11, MIM#615084

Created: 11 Nov 2020, 7:05 a.m.

Panel version: 0.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
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 Nov 2020, 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 Nov 2020, 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 Nov 2020, Gel status: 1

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 Congenital ophthalmoplegia. Sources: Expert list 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, MIM#615084 Review for gene: MGME1 was set to GREEN