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Early-onset Parkinson disease

Gene: DCTN1

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Parkinsonism is a characteristic feature of Perry syndrome
Created: 22 Feb 2024, 4:25 a.m. | Last Modified: 22 Feb 2024, 4:25 a.m.
Panel Version: 0.280
Created: 22 Feb 2024, 4:25 a.m.
Last Modified: 22 Feb 2024, 4:25 a.m.
Panel version: 0.280

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

This is a well-established Parkinson's disease gene
Created: 25 Aug 2023, 12:45 a.m. | Last Modified: 25 Aug 2023, 12:45 a.m.
Panel Version: 0.243

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Perry syndrome MONDO:0008201

Publications

Created: 25 Aug 2023, 12:45 a.m.
Last Modified: 25 Aug 2023, 12:45 a.m.
Panel version: 0.243

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Perry syndrome MONDO:0008201
OMIM
601143
Clinvar variants
Variants in DCTN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dctn1 has been classified as Green List (High Evidence).

22 Feb 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: DCTN1 were changed from Perry syndrome MONDO:0008201 to Perry syndrome MONDO:0008201

22 Feb 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: DCTN1 were changed from to Perry syndrome MONDO:0008201

22 Feb 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: DCTN1 were set to 20945553

22 Feb 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: DCTN1 were set to

22 Feb 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: DCTN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Feb 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: DCTN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Feb 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: DCTN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dctn1 has been classified as Green List (High Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DCTN1 was added gene: DCTN1 was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: DCTN1 was set to Unknown