1. Panels
  2. Early-onset Dementia
  3. DCTN1
Regions in panel
Prev Next

Early-onset Dementia

Gene: DCTN1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Perry syndrome is an autosomal dominant neurodegenerative disorder classically characterized by adult-onset parkinsonism and depression, followed by weight loss and respiratory hypoventilation. The phenotype has subsequently been expanded to include features that overlap with other neurodegenerative conditions, including frontotemporal dementia and progressive supranuclear palsy
Created: 25 Sep 2020, 1:27 a.m. | Last Modified: 25 Sep 2020, 1:27 a.m.
Panel Version: 0.91

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Perry syndrome, MIM# 168605

Publications

Created: 25 Sep 2020, 1:27 a.m.
Last Modified: 25 Sep 2020, 1:27 a.m.
Panel version: 0.91

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, MIM# 168605
OMIM
601143
Clinvar variants
Variants in DCTN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DCTN1 were changed from to Perry syndrome, MIM# 168605

25 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DCTN1 were set to

25 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

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 Dementia_MGHA_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