MGME1

mitochondrial genome maintenance exonuclease 1
OMIM: 615076
PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Mitochondrial DNA depletion syndrome 11, 615084, Disorders of mitochondrial DNA maintenance and integrity
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Disorders of mitochondrial DNA maintenance and integrity, Mitochondrial DNA depletion syndrome 11, 615084
R-numbers: R352
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 11, 615084
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 11, 615084