GFM2

G elongation factor mitochondrial 2
OMIM: 606544
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Early-onset neurological presentations of mitochondrial disease
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early-onset neurological presentations of mitochondrial disease, Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits