This Panel is marked as Internal
Dystonia - childhood onset
Gene: DCTN1
DCTN1 (dynactin subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000204843
EnsemblGeneIds (GRCh37): ENSG00000204843
OMIM: 601143, Gene2Phenotype
DCTN1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000204843
EnsemblGeneIds (GRCh37): ENSG00000204843
OMIM: 601143, Gene2Phenotype
DCTN1 is in 11 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Neuropathy, distal hereditary motor, type VIIB
- OMIM
- 601143
- Clinvar variants
- Variants in DCTN1
- Penetrance
- None
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Paediatric motor neuronopathies
- Adult onset neurodegenerative disorder
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Amyotrophic lateral sclerosis/motor neuron disease
- Hereditary neuropathy
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Eleanor Williams: Updated to green when making t
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: DCTN1 was added gene: DCTN1 was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DCTN1 were set to Neuropathy, distal hereditary motor, type VIIB