Parkinson Disease and Complex Parkinsonism
Gene: DCTN1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Perry syndrome
Publications
Comment on list classification: Multiple case/family reports of different genetic variants in this gene in patients with Perry syndrome. This is red on the Early onset dystonia gene panel Version 1.0 as there is no evidence for dystonia symptoms at early stage.Created: 28 Oct 2016, 12:42 p.m.
Comment on list classification: Is on the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 11:05 a.m.
"DNCT1" was submitted by the expert, however is not a HGNC-approved symbol. The likely symbol is "DCTN1".Created: 24 Jul 2015, 11:20 a.m.
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for DCTN1 were set to 20945553 (Gene Reviews); 19136952; 20437543; 19136952; 24343258;27346608;27132499
Publications for DCTN1 were set to 20945553 (Gene Reviews);19136952;20437543;19136952;24343258
Phenotypes for DCTN1 were set to Perry syndrome
This gene has been classified as Green List (High Evidence).
DCTN1 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert
DCTN1 was created by ellenmcdonagh