Incidentalome
Gene: SNCB
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
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
Gene: sncb has been classified as Red List (Low Evidence).
Tag disputed tag was added to gene: SNCB.
Phenotypes for gene: SNCB were changed from to Dementia, Lewy body, MIM#127750
Publications for gene: SNCB were set to
Mode of inheritance for gene: SNCB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: sncb has been classified as Red List (Low Evidence).
gene: SNCB was added gene: SNCB was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SNCB was set to Unknown