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Inborn errors of metabolism

Gene: DNM2

Green List (high evidence)

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

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

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

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DNM2 were set to 18560793; 17932957; 17636067; 17008356; 16227997; 15731758

1 Oct 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

30 Sep 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DNM2 were set to

25 Sep 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).

25 Sep 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).

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

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