Adult onset dystonia, chorea or related movement disorder
Gene: SNCAEnsemblGeneIds (GRCh38): ENSG00000145335
EnsemblGeneIds (GRCh37): ENSG00000145335
OMIM: 163890, Gene2Phenotype
SNCA is in 5 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Dementia, Lewy body, OMIM:127750
- Parkinson disease 4, OMIM:605543
- Parkinson disease 1, OMIM:168601
- OMIM
- 163890
- Clinvar variants
- Variants in SNCA
- Penetrance
- None
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SNCA were changed from Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4); Dementia, Lewy body, 127750; Parkinson disease 4, 605543; Parkinson disease 1, 168601 to Dementia, Lewy body, OMIM:127750; Parkinson disease 4, OMIM:605543; Parkinson disease 1, OMIM:168601
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SNCA.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to SNCA.
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)gene: SNCA was added gene: SNCA was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: SNCA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SNCA were set to Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4); Dementia, Lewy body, 127750; Parkinson disease 4, 605543; Parkinson disease 1, 168601 Mode of pathogenicity for gene: SNCA was set to Other - please provide details in the comments