Genomics England
GMS Panels
Panels
Genes and Entities

GFM2

G elongation factor mitochondrial 2
OMIM: 606544
PanelMode of inheritanceDetails
3 panels
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Early-onset neurological presentations of mitochondrial disease
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early-onset neurological presentations of mitochondrial disease, Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits