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  2. Likely inborn error of metabolism
  3. GFM2
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Likely inborn error of metabolism

Gene: GFM2

Green List (high evidence)
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: Imported from Mitochondrial disorders 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

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

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

Panel version: Imported from Mitochondrial disorders 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: Imported from Mitochondrial disorders panel version 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 39, OMIM:618397
OMIM
606544
Clinvar variants
Variants in GFM2
Penetrance
None
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 Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Early-onset neurological presentations of mitochondrial disease to Combined oxidative phosphorylation deficiency 39, OMIM:618397

6 Aug 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to GFM2. Mode of inheritance for gene GFM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Early-onset neurological presentations of mitochondrial disease for gene: GFM2 Publications for gene GFM2 were changed from to 22700954; 26016410; 29075935 Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: GFM2 was added gene: GFM2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GFM2 was set to Unknown Phenotypes for gene: GFM2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)