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Possible mitochondrial disorder - nuclear genes

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

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

Publications

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

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
OMIM
606544
Clinvar variants
Variants in GFM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: GFM2 was added gene: GFM2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GFM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFM2 were set to 29075935 Phenotypes for gene: GFM2 were set to Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits