Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: DNM2EnsemblGeneIds (GRCh38): ENSG00000079805
EnsemblGeneIds (GRCh37): ENSG00000079805
OMIM: 602378, Gene2Phenotype
DNM2 is in 12 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Distal myopathy is a common feature reported in affected cases.
Sources: LiteratureCreated: 7 Jun 2023, 4:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
autosomal dominant centronuclear myopathy MONDO:0008048
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mono-allelic variants in this gene also cause a myopathy, and bi-allelic variants cause a more severe arthrogryposis phenotype.
At least 5 families reported with neuropathy.Created: 26 May 2021, 9:49 p.m. | Last Modified: 26 May 2021, 9:49 p.m.
Panel Version: 0.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; MONDO:0011674
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- autosomal dominant centronuclear myopathy 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
Bryony Thompson (Royal Melbourne Hospital)gene: DNM2 was added gene: DNM2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNM2 were set to 16227997; 33458580; 30232666; 24465259; 23938035 Phenotypes for gene: DNM2 were set to autosomal dominant centronuclear myopathy MONDO:0008048 Review for gene: DNM2 was set to GREEN gene: DNM2 was marked as current diagnostic