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  3. DNM2
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Mitochondrial DNA maintenance disorder

Gene: DNM2

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

4 reviews

Arina Puzriakova (Genomics England Curator)

The 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, 3:32 p.m. | Last Modified: 3 Aug 2022, 3:32 p.m.
Panel Version: 1.10
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 12:09 p.m. | Last Modified: 9 Mar 2022, 12:09 p.m.
Panel Version: 1.6
Created: 9 Mar 2022, 12:09 p.m.
Last Modified: 9 Mar 2022, 12:09 p.m.
Panel version: 1.10

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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. Gene Symbol submitted: DNM2; Suggested intial gene rating: Green; Information provided: Mode of inheritance, phenotype and publication.
Created: 1 Feb 2019, 4:28 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

Created: 1 Feb 2019, 4:28 p.m.

Panel version: 0.3

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
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate B, 606482
  • Charcot-Marie-Tooth disease, axonal type 2M, 606482
  • Centronuclear myopathy 1, 160150
OMIM
602378
Clinvar variants
Variants in DNM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene DNM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

30 Apr 2019, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DNM2 were set to 25492887, 25492887 (abstract)

1 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: DNM2 was added gene: DNM2 was added to Mitochondrial DNA maintenance disorder. 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