Adult onset dystonia, chorea or related movement disorder
Gene: SNCAIPEnsemblGeneIds (GRCh38): ENSG00000064692
EnsemblGeneIds (GRCh37): ENSG00000064692
OMIM: 603779, Gene2Phenotype
SNCAIP is in 3 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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.
Emily Jones (North Bristol NHS Trust)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- Parkinson Disease, Dominant/Recessive
- OMIM
- 603779
- Clinvar variants
- Variants in SNCAIP
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Parkinson Disease, Dominant/Recessive for gene: SNCAIP Publications for gene SNCAIP were changed from to 18366718; 21344240
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SNCAIP.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to SNCAIP.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)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