Adult onset dystonia, chorea or related movement disorder
Gene: SNCAIP
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain REDCreated: 19 Jun 2019, 4:47 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
18366718 showed no association with disease. 21344240 identified SNCAIP as candidate gene for PDCreated: 23 Apr 2019, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson Disease, Dominant/Recessive
Publications
Added phenotypes Parkinson Disease, Dominant/Recessive for gene: SNCAIP Publications for gene SNCAIP were changed from to 18366718; 21344240
Source NHS GMS was added to SNCAIP.
Source South West GLH was added to SNCAIP.
gene: SNCAIP was added gene: SNCAIP was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: SNCAIP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNCAIP were set to Parkinson Disease, Dominant/Recessive