Mitochondrial disorders
Gene: DNM2The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.Created: 3 Aug 2022, 3:31 p.m. | Last Modified: 3 Aug 2022, 3:31 p.m.
Panel Version: 2.117
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 12:07 p.m. | Last Modified: 9 Mar 2022, 12:07 p.m.
Panel Version: 2.88
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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: dnm2 has been classified as Green List (High Evidence).
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 23813975
Mode of inheritance for gene: DNM2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source NHS GMS was added to DNM2. Source Expert Review Green was added to DNM2. Rating Changed from Red List (low evidence) to Green List (high evidence)
Publications for gene: DNM2 were set to
This gene has been classified as Red List (Low Evidence).
DNM2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list