Neuromuscular arthrogryposis
Gene: DNM2EnsemblGeneIds (GRCh38): ENSG00000079805
EnsemblGeneIds (GRCh37): ENSG00000079805
OMIM: 602378, Gene2Phenotype
DNM2 is in 13 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital May 2019 on behalf of London South GLH for the GMS Neurology specialist test groupCreated: 16 May 2019, 9:33 p.m.
Rachael Mein (Viapath at Guy's Hospital)
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Myopathy, centronuclear, 160150
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- London South GLH
- Phenotypes
-
- Myopathy, centronuclear, 160150
- OMIM
- 602378
- Clinvar variants
- Variants in DNM2
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Mitochondrial DNA maintenance disorder
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- Congenital myopathy
- Undiagnosed metabolic disorders
- Fetal anomalies
- Hereditary neuropathy
- Distal myopathies
- Arthrogryposis
- Mitochondrial disorders
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to DNM2.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to DNM2. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)gene: DNM2 was added gene: DNM2 was added to Neuromuscular arthrogryposis. Sources: London South GLH Mode of inheritance for gene: DNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: DNM2 were set to Myopathy, centronuclear, 160150