Childhood onset dystonia, chorea or related movement disorder
Gene: DCTN1

DCTN1 (dynactin subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000204843
EnsemblGeneIds (GRCh37): ENSG00000204843
OMIM: 601143, Gene2Phenotype
DCTN1 is in 11 panels

1 review

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Dystonia does not appear to be predoinant feature in any of the conditions associated with the disease, but can be present
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.

Panel Version: 0.10

Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH panel version 0.10

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

PanelApp
South West GLH

Phenotypes

Neuropathy, distal hereditary motor, type VIIB

OMIM

601143

Clinvar variants

Variants in DCTN1

Penetrance

None

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 1

Added New Source, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to DCTN1. Added phenotypes Neuropathy, distal hereditary motor, type VIIB for gene: DCTN1

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: DCTN1 was added gene: DCTN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DCTN1 were set to Neuropathy, distal hereditary motor, type VIIB

Childhood onset dystonia, chorea or related movement disorder Gene: DCTN1