Muscular dystrophy and myopathy_Paediatric
Gene: DNM2EnsemblGeneIds (GRCh38): ENSG00000079805
EnsemblGeneIds (GRCh37): ENSG00000079805
OMIM: 602378, Gene2Phenotype
DNM2 is in 12 panels
2 reviews
Sangavi Sivagnanasundram (Melbourne Health)
PMID: 17932957, 19122038
Multiple individuals with centronuclear myopathy.
Age of onset is variable but typically in the early childhood.
Sources: OtherCreated: 5 May 2023, 1:20 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Centronuclear Myopathy 1 (MIM#160150; MONDO:0008048)
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties.
Sources: Expert listCreated: 11 Jun 2020, 8:59 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Centronuclear myopathy 1, MIM# 160150
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert Review Green
- Expert list
- Phenotypes
-
- Centronuclear Myopathy 1 (MIM#160150
- MONDO:0008048)
- OMIM
- 602378
- Clinvar variants
- Variants in DNM2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Hereditary Spastic Paraplegia - adult onset
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Hereditary Neuropathy_CMT - isolated
- Multiple pterygium syndrome_Fetal akinesia sequence
- Cerebral Palsy
- Muscular dystrophy and myopathy_Paediatric
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dnm2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dnm2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: DNM2 was added gene: DNM2 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNM2 were set to 17932957; 19122038 Phenotypes for gene: DNM2 were set to Centronuclear Myopathy 1 (MIM#160150; MONDO:0008048) Review for gene: DNM2 was set to GREEN