Adult onset dystonia, chorea or related movement disorder
Gene: DCTN1EnsemblGeneIds (GRCh38): ENSG00000204843
EnsemblGeneIds (GRCh37): ENSG00000204843
OMIM: 601143, Gene2Phenotype
DCTN1 is in 11 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Perry syndrome, OMIM:168605
- Neuronopathy, distal hereditary motor, type VIIB, OMIM:607641
- OMIM
- 601143
- Clinvar variants
- Variants in DCTN1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Parkinson Disease and Complex Parkinsonism
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- 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
- Amyotrophic lateral sclerosis/motor neuron disease
- Intellectual disability
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DCTN1 were changed from Perry syndrome to Perry syndrome, OMIM:168605; Neuronopathy, distal hereditary motor, type VIIB, OMIM:607641
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to DCTN1.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to DCTN1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: DCTN1 was added gene: DCTN1 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DCTN1 were set to 20945553 (Gene Reviews); 24343258; 20437543; 19136952; 27132499; 27346608 Phenotypes for gene: DCTN1 were set to Perry syndrome