Early onset dementia (encompassing fronto-temporal dementia and prion 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 Thomas (Genomics England Curator)
Consider adding at next review as frontotemporal dementia part of the phenotype.Created: 11 Oct 2016, 7:49 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Perry syndrome
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Other
- Phenotypes
-
- Perry syndrome
- OMIM
- 601143
- Clinvar variants
- Variants in DCTN1
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Paediatric motor neuronopathies
- Early onset dystonia
- Hereditary neuropathy or pain disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Adult onset neurodegenerative disorder
- Amyotrophic lateral sclerosis/motor neuron disease
- Childhood onset dystonia, chorea or related movement disorder
- Parkinson Disease and Complex Parkinsonism
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
11 Oct 2016, Gel status: 0
Created
Ellen Thomas (Genomics England Curator)DCTN1 was created by EllenThomas
11 Oct 2016, Gel status: 0
Added New Source
Ellen Thomas (Genomics England Curator)DCTN1 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Other