GFM2

G elongation factor mitochondrial 2
OMIM: 606544
PanelMode of inheritanceDetails
3 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
Combined oxidative phosphorylation deficiency 39, OMIM:618397
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 39, OMIM:618397, Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 39, OMIM:618397, Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits