Hereditary Spastic Paraplegia - adult onset
Gene: DNM2EnsemblGeneIds (GRCh38): ENSG00000079805
EnsemblGeneIds (GRCh37): ENSG00000079805
OMIM: 602378, Gene2Phenotype
DNM2 is in 12 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Additional families with HSP required.Created: 19 Apr 2020, 9:33 a.m. | Last Modified: 19 Apr 2020, 9:33 a.m.
Panel Version: 0.8
A single family segregating a heterozygous missense variant with HSP, and an in vitro functional assay supporting deleterious effect for the missense variant. Monoallelic variants usually cause Charcot-Marie-Tooth disease and mypoathy.Created: 19 Apr 2020, 9:29 a.m. | Last Modified: 19 Apr 2020, 9:32 a.m.
Panel Version: 0.7
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary spastic paraplegia
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- Complicated hereditary spastic paraplegia
- 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 Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dnm2 has been classified as Red List (Low 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 Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNM2 were set to 26517984 Phenotypes for gene: DNM2 were set to Complicated hereditary spastic paraplegia