Mitochondrial disorders
Gene: DNM2EnsemblGeneIds (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, 3:31 p.m. | Last Modified: 3 Aug 2022, 3:31 p.m.
Panel Version: 2.117
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 12:07 p.m. | Last Modified: 9 Mar 2022, 12:07 p.m.
Panel Version: 2.88
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: 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)
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Expert list
- 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
- Complete
- Publications
-
- 23813975
- https://doi.org/10.1016/j.nmd.2012.06.124
- Panels with this gene
-
- Intellectual disability
- Likely inborn error of metabolism
- Hereditary neuropathy
- Mitochondrial DNA maintenance disorder
- Hereditary neuropathy or pain disorder
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Congenital myopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Fetal anomalies
- Distal myopathies
- Undiagnosed metabolic disorders
History Filter Activity
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
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: dnm2 has been classified as Green List (High Evidence).
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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: DNM2 were set to 23813975
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: DNM2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to DNM2. Source Expert Review Green was added to DNM2. Rating Changed from Red List (low evidence) to Green List (high evidence)
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: DNM2 were set to
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)DNM2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list