Likely inborn error of metabolism - targeted testing not possible
Gene: DNM2
Comment on phenotypes: Disorders of mitochondrial DNA maintenance and integrityCreated: 1 Oct 2019, 3:38 p.m. | Last Modified: 1 Oct 2019, 3:38 p.m.
Panel Version: 1.332
Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 1 case with multiple deletions and COX negative fibres; 5 cases presented in a poster with dominant DMN2 variants (had COX deficient muscle fibres, one case with the p.Arg369Trp revealed disruption of the dynamic mitochondrial network, https://doi.org/10.1016/j.nmd.2012.06.124).
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial DNA maintenance disorder (Version 0.8).Created: 23 May 2019, 1:44 p.m.
Comment when marking as ready: Remain red for now due to second reviewer comments.Created: 7 Mar 2016, 5:50 p.m.
Mode of inheritance for gene: DNM2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DNM2 were set to 18560793; 17932957; 17636067; 17008356; 16227997; 15731758
Phenotypes for gene: DNM2 were changed from Disorders of mitochondrial DNA maintenance and integrity to Centronuclear myopathy 1 160150; Charcot-Marie-Tooth disease, axonal type 2M 606482; Charcot-Marie-Tooth disease, dominant intermediate B 606482
Publications for gene: DNM2 were set to
Gene: dnm2 has been classified as Green List (High Evidence).
Gene: dnm2 has been classified as Green List (High Evidence).
Sarah Leigh: Associated with phenotype in O
gene: DNM2 was added gene: DNM2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: DNM2 was set to Unknown Phenotypes for gene: DNM2 were set to Disorders of mitochondrial DNA maintenance and integrity