Incidentalome
Gene: SNCB

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

2 reviews

Eleanor Williams (Genomics England)

I don't know

PMID: 33760043 - Psol et al 2021 - expressed the V70M and P123H variants found by Ohtake et al 2004 using adeno-associated viral vectors in dopaminergic and non-dopaminergic neurons in vitro and in vivo. They found that both mutations cause distinct and mutually exclusive neuropathological lesions.
Created: 5 May 2021, 5:31 p.m. | Last Modified: 5 May 2021, 5:31 p.m.

Panel Version: 0.65

Phenotypes
Dementia, Lewy body, OMIM:127750

Publications

33760043

Created: 5 May 2021, 5:31 p.m.
Last Modified: 5 May 2021, 5:31 p.m.
Panel version: 0.65

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, 2:41 a.m. | Last Modified: 25 Sep 2020, 2:41 a.m.

Panel Version: 0.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dementia, Lewy body, MIM#127750

Publications

Created: 25 Sep 2020, 2:41 a.m.
Last Modified: 25 Sep 2020, 2:41 a.m.
Panel version: 0.35

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
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