Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: DNM2EnsemblGeneIds (GRCh38): ENSG00000079805
EnsemblGeneIds (GRCh37): ENSG00000079805
OMIM: 602378, Gene2Phenotype
DNM2 is in 13 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).Created: 28 Nov 2019, 5:27 p.m. | Last Modified: 28 Nov 2019, 5:27 p.m.
Panel Version: 1.174
Chiara Marini Bettolo (NUTH)
congenital myopathyCreated: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Centronuclear myopathy
Publications
Ana Topf (John Walton Muscular Dystrophy Research Centre)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Centronuclear myopathy 1, 160150
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
- Phenotypes
-
- Centronuclear myopathy 1, 160150
- Centronuclear myopathy
- OMIM
- 602378
- Clinvar variants
- Variants in DNM2
- Penetrance
- None
- Publications
- 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
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: dnm2 has been classified as Red List (Low Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to DNM2.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to DNM2.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: DNM2 were changed from Centronuclear myopathy 1, 160150 to Centronuclear myopathy 1, 160150; Centronuclear myopathy
Set mode of inheritance, Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene DNM2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Centronuclear myopathy 1, 160150 for gene: DNM2 Publications for gene DNM2 were changed from to 17932957
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: DNM2 was added gene: DNM2 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: DNM2 was set to