Mitochondrial disorders
Gene: GFM2Comment 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.
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
single mutation report in literatureCreated: 6 Feb 2016, 11:08 p.m.
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
Publications for gene: GFM2 were set to 29075935, 22700954, 26016410
Gene: gfm2 has been classified as Green List (High Evidence).
Phenotypes for gene: GFM2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Early-onset neurological presentations of mitochondrial disease; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Mode of inheritance for gene: GFM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFM2 were set to
Victorian Clinical Genetics Services was added to GFM2. Panel: Mitochondrial disorders
GFM2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list