Likely inborn error of metabolism
Gene: DNM2

DNM2 (dynamin 2)
EnsemblGeneIds (GRCh38): ENSG00000079805
EnsemblGeneIds (GRCh37): ENSG00000079805
OMIM: 602378, Gene2Phenotype
DNM2 is in 13 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: Disorders of mitochondrial DNA maintenance and integrity
Created: 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.

Created: 23 May 2019, 1:44 p.m.

Panel version: 1.278

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Remain red for now due to second reviewer comments.
Created: 7 Mar 2016, 5:50 p.m.

Created: 7 Mar 2016, 5:50 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.487

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Centronuclear myopathy 1 160150
Charcot-Marie-Tooth disease, axonal type 2M 606482
Charcot-Marie-Tooth disease, dominant intermediate B 606482

OMIM

602378

Clinvar variants

Variants in DNM2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

5 Nov 2019, Gel status: 3

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: DNM2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Oct 2019, Gel status: 3