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  3. DCTN1
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Dystonia - complex

Gene: DCTN1

Red List (low evidence)
DCTN1 (dynactin subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000204843
EnsemblGeneIds (GRCh37): ENSG00000204843
OMIM: 601143, Gene2Phenotype
DCTN1 is in 8 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Dystonia is reported in two out of eight cases in a single family.
Sources: Expert list
Created: 5 Apr 2020, 6:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Perry syndrome MIM#168605

Publications

Created: 5 Apr 2020, 6:33 a.m.

Panel version: 0.16

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Perry syndrome MIM#168605
OMIM
601143
Clinvar variants
Variants in DCTN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dctn1 has been classified as Red List (Low Evidence).

5 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DCTN1 was added gene: DCTN1 was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DCTN1 were set to 24343258 Phenotypes for gene: DCTN1 were set to Perry syndrome MIM#168605 Review for gene: DCTN1 was set to RED