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  3. DCTN1
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Motor Neurone 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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

PMID: 15326253
4 individuals from 3 unrelated families with confirmed ALS phenotype and mutation in DCTN1.

PMID: 12062019
Mouse model showed the disruption of the dynein-dynactin complex resulting in a loss of motor neurons and axon in the presence of DCTN1 mutation - leading to ALS phenotypes in the mice.
Created: 17 May 2023, 6:48 a.m. | Last Modified: 17 May 2023, 6:48 a.m.
Panel Version: 0.138

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
{Amyotrophic lateral sclerosis, susceptibility to} - MIM# 105400

Publications

Created: 17 May 2023, 6:48 a.m.
Last Modified: 17 May 2023, 6:48 a.m.
Panel version: 0.138

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The p.G59S variant is recurrent, but others reported as well.

Variants in this gene also cause more complex neurological phenotypes. Sometimes multiple phenotypes present in a single family.
Created: 26 May 2021, 9:48 a.m. | Last Modified: 26 May 2021, 9:48 a.m.
Panel Version: 0.186

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641; MONDO:0011879; Perry syndrome, MIM# 168605

Publications

Created: 26 May 2021, 9:48 a.m.
Last Modified: 26 May 2021, 9:48 a.m.
Panel version: Imported from Mendeliome panel version 0.13892

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
601143
Clinvar variants
Variants in DCTN1
Penetrance
None
Panels with this gene

History Filter Activity

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 Motor neuron disease MND_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