Cerebral Palsy
Gene: DNM2EnsemblGeneIds (GRCh38): ENSG00000079805
EnsemblGeneIds (GRCh37): ENSG00000079805
OMIM: 602378, Gene2Phenotype
DNM2 is in 12 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual reported with mono-allelic missense variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: LiteratureCreated: 27 May 2024, 5:19 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, axonal type 2M, MIM#606482
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Charcot-Marie-Tooth disease, axonal type 2M, MIM#606482
- OMIM
- 602378
- Clinvar variants
- Variants in DNM2
- Penetrance
- None
- Publications
-
- PMID: 38693247
- 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 Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dnm2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: DNM2 was added gene: DNM2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNM2 were set to PMID: 38693247 Phenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, axonal type 2M, MIM#606482 Review for gene: DNM2 was set to RED