Mitochondrial disease
Gene: DNM2EnsemblGeneIds (GRCh38): ENSG00000079805
EnsemblGeneIds (GRCh37): ENSG00000079805
OMIM: 602378, Gene2Phenotype
DNM2 is in 12 panels
2 reviews
Kristin Rigbye (Victorian Clinical Genetics Services)
DNM2 is generally associated with autosomal dominant disease, however recessive inheritance of a hypomorphic allele has been reported in a family where homozygous offspring displayed a severe lethal neonatal phenotype, and the carrier parents presented with a mild form of myopathy (OMIM).
Only missense variants have been reported as pathogenic, and cause a gain of function in the dominant disorders (increased dynamin stability and GTPase activity reported in OMIM).Created: 29 Apr 2020, 11:29 p.m. | Last Modified: 29 Apr 2020, 11:29 p.m.
Panel Version: 0.442
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Involved in mitochondrial division, histopathological abnormalities affecting mitochondria reported. Neuromuscular presentation, AR variants are thought to be hypomorphic.
Sources: Expert listCreated: 11 Mar 2020, 7:20 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Centronuclear myopathy 1 160150 AD 3 Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; Lethal congenital contracture syndrome 5, MIM# 615368
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
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Centronuclear myopathy 1 160150 AD 3 Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482
- Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482
- Lethal congenital contracture syndrome 5, MIM# 615368
- OMIM
- 602378
- Clinvar variants
- Variants in DNM2
- Penetrance
- None
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dnm2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dnm2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DNM2 was added gene: DNM2 was added to Mitochondrial disease. Sources: Expert list 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 Centronuclear myopathy 1 160150 AD 3 Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; Lethal congenital contracture syndrome 5, MIM# 615368 Review for gene: DNM2 was set to GREEN gene: DNM2 was marked as current diagnostic