This Panel is marked as Internal
Early onset and familial Parkinson's Disease
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, 11:05 a.m.
"DNCT1" was submitted by the expert, however is not a HGNC-approved symbol. The likely symbol is "DCTN1".Created: 24 Jul 2015, 11:20 a.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
-
- Hereditary neuropathy or pain disorder
- Parkinson Disease and Complex Parkinsonism
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Early onset dystonia
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary neuropathy
- Amyotrophic lateral sclerosis/motor neuron disease
- Paediatric motor neuronopathies
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 Early onset and familial Parkinson's Diseasepanel. Sources: Expert