This Panel is marked as Internal
Complex Parkinsonism (includes pallido-pyramidal syndromes)
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
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Is on the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 11:06 a.m.
"DNCT1" was submitted on the expert list. DCTN1 is the likely HGNC-approved symbol for this genes.Created: 24 Jul 2015, 12:21 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert
- OMIM
- 601143
- Clinvar variants
- Variants in DCTN1
- Penetrance
- Complete
- Panels with this gene
-
- Parkinson Disease and Complex Parkinsonism
- Intellectual disability
- Adult onset neurodegenerative disorder
- Paediatric motor neuronopathies
- Early onset dystonia
- Hereditary neuropathy or pain disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Amyotrophic lateral sclerosis/motor neuron disease
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Hereditary neuropathy
History Filter Activity
10 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
24 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)DCTN1 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Expert