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Early-onset Dementia

Gene: SNCB

Red List (low evidence)
SNCB (synuclein beta)
EnsemblGeneIds (GRCh38): ENSG00000074317
EnsemblGeneIds (GRCh37): ENSG00000074317
OMIM: 602569, Gene2Phenotype
SNCB is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two individuals with missense variants reported in 2004, however note 54 and 15 hets present in gnomad respectively. Association with SNPs in this gene reported in another study, but significance not reached.
Created: 25 Sep 2020, 2:38 a.m. | Last Modified: 25 Sep 2020, 2:38 a.m.
Panel Version: 0.103

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dementia, Lewy body, 127750

Publications

Created: 25 Sep 2020, 2:38 a.m.
Last Modified: 25 Sep 2020, 2:38 a.m.
Panel version: 0.103

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Dementia, Lewy body, MIM#127750
Tags
disputed
OMIM
602569
Clinvar variants
Variants in SNCB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Sep 2020, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: SNCB.

25 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sncb has been classified as Red List (Low Evidence).

25 Sep 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SNCB were changed from to Dementia, Lewy body, MIM#127750

25 Sep 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SNCB were set to

25 Sep 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sncb has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SNCB was added gene: SNCB 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: SNCB was set to Unknown