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DCTN1

dynactin subunit 1

HCNC Approved Symbol
DCTN1 (HGNC:2711)
Genomic Coordinates
2:74,361,155 - 74,391,866 (2p13.1)
Synonyms
Disease Associations
This gene is associated with the following 3 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
{Amyotrophic lateral sclerosis, susceptibility to}
105400AD; AR
Neuronopathy, distal hereditary motor, autosomal dominant 14
607641AD
Perry syndrome
168605AD

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the DCTN1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Dysarthria
 1 (100.0%)
Fasciculation
 1 (100.0%)
Fasciculations
 1 (100.0%)
Gynecomastia
 1 (100.0%)
Hypercapnia
 1 (100.0%)