Likely inborn error of metabolism - targeted testing not possible
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 Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Early-onset neurological presentations of mitochondrial disease to Combined oxidative phosphorylation deficiency 39, OMIM:618397
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)
Sarah Leigh: Associated with phenotype in O
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)