Distal myopathies
Gene: DNM2EnsemblGeneIds (GRCh38): ENSG00000079805
EnsemblGeneIds (GRCh37): ENSG00000079805
OMIM: 602378, Gene2Phenotype
DNM2 is in 13 panels
1 review
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Can present with predominantly distal muscle involvementCreated: 20 Feb 2017, 4:12 p.m.
can present with distal muscle involvement as discussed with expert Dr Bugiardini (UCL Institute of Neurology)Created: 9 Feb 2017, 2:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, centronuclear, 160150
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Centronuclear myopathy 1, OMIM:160150
- OMIM
- 602378
- Clinvar variants
- Variants in DNM2
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Hereditary neuropathy
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Congenital myopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Intellectual disability
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Distal myopathies
- Undiagnosed metabolic disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DNM2 were changed from Myopathy, centronuclear, 160150 to Centronuclear myopathy 1, OMIM:160150
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Arianna Tucci (Genomics England Curator)DNM2 was added to Distal myopathiespanel. Sources: Expert Review
Created
Arianna Tucci (Genomics England Curator)DNM2 was created by arianna