Genes in panel
STRs in panel
Prev Next

Undiagnosed metabolic disorders

Gene: DNM2

Green List (high evidence)

DNM2 (dynamin 2)
EnsemblGeneIds (GRCh38): ENSG00000079805
EnsemblGeneIds (GRCh37): ENSG00000079805
OMIM: 602378, Gene2Phenotype
DNM2 is in 14 panels

1 review

Sarah Leigh (Genomics England Curator)

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: 1 Oct 2019, 3:39 p.m. | Last Modified: 1 Oct 2019, 3:39 p.m.
Panel Version: 1.364

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
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

1 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: dnm2 has been classified as Green List (High Evidence).

1 Oct 2019, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DNM2 were set to

1 Oct 2019, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: DNM2 were changed from Centronuclear myopathy 1 160150; -Marie-Tooth disease, axonal type 2M 606482; Charcot-Marie-Tooth disease, dominant intermediate B 606482 to Centronuclear myopathy 1 160150; Charcot-Marie-Tooth disease, axonal type 2M 606482; Charcot-Marie-Tooth disease, dominant intermediate B 606482

30 Sep 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: DNM2 was added gene: DNM2 was added to Undiagnosed metabolic disorders. Sources: Other Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DNM2 were set to Centronuclear myopathy 1 160150; -Marie-Tooth disease, axonal type 2M 606482; Charcot-Marie-Tooth disease, dominant intermediate B 606482