Mitochondrial disease
Gene: GFM2

GFM2 (G elongation factor mitochondrial 2)
EnsemblGeneIds (GRCh38): ENSG00000164347
EnsemblGeneIds (GRCh37): ENSG00000164347
OMIM: 606544, Gene2Phenotype
GFM2 is in 3 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Combined oxidative phosphorylation deficiency-39 (COXPD39) is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. Affected individuals show global developmental delay, sometimes with regression after normal early development, axial hypotonia with limb spasticity or abnormal involuntary movements, and impaired intellectual development with poor speech. More variable features may include hypotonia, seizures, and features of Leigh syndrome on brain imaging. There are variable deficiencies of the mitochondrial respiratory chain enzyme complexes in patient tissues.

4 families reported with biallelic variants with functional evidence in 1 family.
Created: 19 May 2022, 5:45 a.m. | Last Modified: 19 May 2022, 5:45 a.m.

Panel Version: 0.821

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 39, OMIM #618397

Publications

PMID: 22700954, 26016410, 29075935

Created: 19 May 2022, 5:45 a.m.
Last Modified: 19 May 2022, 5:45 a.m.
Panel version: 0.821

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Combined oxidative phosphorylation deficiency 39, OMIM #618397

OMIM

606544

Clinvar variants

Variants in GFM2

Penetrance

None

Publications

Panels with this gene