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Early-onset Dementia

Gene: SNCA

Green List (high evidence)
SNCA (synuclein alpha)
EnsemblGeneIds (GRCh38): ENSG00000145335
EnsemblGeneIds (GRCh37): ENSG00000145335
OMIM: 163890, Gene2Phenotype
SNCA is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 32849182; 19 index patients; 1 with whole-gene triplications, 14 with duplications and 4 SNVs (missense) PMID: 32740728; Literature review of variants in SNCA includes 9 unique missense and notes that multiplications are more common than SNVs *Both toxic GoF and LoF have been suggested (PMID: 26858591)
Created: 17 Nov 2020, 4:36 a.m. | Last Modified: 17 Nov 2020, 4:36 a.m.
Panel Version: 0.127

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dementia, Lewy body (MIM#127750); Parkinson disease 1 (MIM#168601); Parkinson disease 4 (MIM#605543)

Publications

Created: 17 Nov 2020, 4:36 a.m.
Last Modified: 17 Nov 2020, 4:36 a.m.
Panel version: 0.127

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Dementia, Lewy body (MIM#127750)
  • Parkinson disease 1 (MIM#168601)
  • Parkinson disease 4 (MIM#605543)
OMIM
163890
Clinvar variants
Variants in SNCA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: snca has been classified as Green List (High Evidence).

17 Nov 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SNCA were changed from to Dementia, Lewy body (MIM#127750); Parkinson disease 1 (MIM#168601); Parkinson disease 4 (MIM#605543)

17 Nov 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SNCA were set to

17 Nov 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SNCA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SNCA was added gene: SNCA was added to Early-onset Dementia_MGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: SNCA was set to Unknown