Mitochondrial disorders
Gene: GFM2

GFM2 (G elongation factor mitochondrial 2)
EnsemblGeneIds (GRCh38): ENSG00000164347
EnsemblGeneIds (GRCh37): ENSG00000164347
OMIM: 606544, Gene2Phenotype
GFM2 is in 5 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Three additional novel biallelic variants in cases of early-onset neurological presentations of mitochondrial disease, together with supportive functional studies (PMID 29075935).
Created: 16 Apr 2019, 2:17 p.m.

Created: 16 Apr 2019, 2:17 p.m.

Panel version: 1.160

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Please note recent publication of two more unrelated cases, bringing the total of reported families in the literature to 4.
Created: 30 Aug 2018, 4:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

29075935, 22700954, 26016410

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Aug 2018, 4:12 a.m.

Panel version: 1.67

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single mutation report in literature
Created: 6 Feb 2016, 11:08 p.m.

Created: 6 Feb 2016, 11:08 p.m.

Panel version: 0.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Expert list

Phenotypes

Combined oxidative phosphorylation deficiency 39, OMIM:618397
Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

OMIM

606544

Clinvar variants

Variants in GFM2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

13 Apr 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GFM2 were changed from Early-onset neurological presentations of mitochondrial disease; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Combined oxidative phosphorylation deficiency 39, OMIM:618397; Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

5 Jun 2019, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: GFM2 were set to 29075935, 22700954, 26016410

16 Apr 2019, Gel status: 3