Parkinson Disease and Complex Parkinsonism
Gene: DCTN1EnsemblGeneIds (GRCh38): ENSG00000204843
EnsemblGeneIds (GRCh37): ENSG00000204843
OMIM: 601143, Gene2Phenotype
DCTN1 is in 11 panels
2 reviews
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Perry syndrome
Publications
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Multiple case/family reports of different genetic variants in this gene in patients with Perry syndrome. This is red on the Early onset dystonia gene panel Version 1.0 as there is no evidence for dystonia symptoms at early stage.Created: 28 Oct 2016, 12:42 p.m.
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
- Phenotypes
-
- Perry syndrome
- OMIM
- 601143
- Clinvar variants
- Variants in DCTN1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Amyotrophic lateral sclerosis/motor neuron disease
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Parkinson Disease and Complex Parkinsonism
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Paediatric motor neuronopathies
- Early onset dystonia
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and further curation.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for DCTN1 were set to 20945553 (Gene Reviews); 19136952; 20437543; 19136952; 24343258;27346608;27132499
Set publications
Ellen McDonagh (Genomics England Curator)Publications for DCTN1 were set to 20945553 (Gene Reviews);19136952;20437543;19136952;24343258
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for DCTN1 were set to Perry syndrome
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)DCTN1 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert
Created
Ellen McDonagh (Genomics England Curator)DCTN1 was created by ellenmcdonagh