Early onset and familial Parkinson's Disease
Gene: SNCAEnsemblGeneIds (GRCh38): ENSG00000145335
EnsemblGeneIds (GRCh37): ENSG00000145335
OMIM: 163890, Gene2Phenotype
SNCA is in 5 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Is on the Parkinson's Disease NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 10:29 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Parkinson disease 4, 605543
- Dementia, Lewy body, 127750
- Parkinson disease 1, 168601
- Parkinson Disease, Dominant
- PARKINSON DISEASE 1, AUTOSOMAL DOMINANT
- PARKINSON DISEASE 4, AUTOSOMAL DOMINANT
- DEMENTIA, LEWY BODY
- Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4)
- OMIM
- 163890
- Clinvar variants
- Variants in SNCA
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SNCA were set to Parkinson disease 4, 605543; Dementia, Lewy body, 127750; Parkinson disease 1, 168601; Parkinson Disease, Dominant; PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; DEMENTIA, LEWY BODY; Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4)
Added New Source
Ellen McDonagh (Genomics England Curator)SNCA was added to Early onset and familial Parkinson's Diseasepanel. Sources: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SNCA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)SNCA was added to Early onset and familial Parkinson's Diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SNCA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)SNCA was added to Early onset and familial Parkinson's Diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)SNCA was added to Early onset and familial Parkinson's Diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Expert