Possible mitochondrial disorder - nuclear genes
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, 3:33 p.m. | Last Modified: 3 Aug 2022, 3:33 p.m.
Panel Version: 1.94
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 12:11 p.m. | Last Modified: 9 Mar 2022, 12:11 p.m.
Panel Version: 1.69
Updated information and Green review collated 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)Created: 10 May 2019, 1:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Charcot-Marie-Tooth disease, axonal type 2M, 606482; Centronuclear myopathy 1, 160150
Publications
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Centronuclear myopathy 1, 160150; Charcot-Marie-Tooth disease, axonal type 2M, 606482; Charcot-Marie-Tooth disease, dominant intermediate B, 606482
Publications
Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 10 May 2019, 1:33 p.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 2:37 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).
Publications for gene: DNM2 were set to 25492887, 25492887 (abstract)
Gene: dnm2 has been classified as Green List (High Evidence).
Gene: dnm2 has been classified as Amber List (Moderate Evidence).
gene: DNM2 was added gene: DNM2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNM2 were set to 25492887, 25492887 (abstract) Phenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Charcot-Marie-Tooth disease, axonal type 2M, 606482; Centronuclear myopathy 1, 160150