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DDG2P

Gene: BSN

Red List (low evidence)
BSN (bassoon presynaptic cytomatrix protein)
EnsemblGeneIds (GRCh38): ENSG00000164061
EnsemblGeneIds (GRCh37): ENSG00000164061
OMIM: 604020, Gene2Phenotype
BSN is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for BSN-related epilepsy are limited, monoallelic_autosomal and undetermined (PMID:36600631). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03460. The DDG2P confidence category, allelic requirement and molecular mechanism for BSN-related epilepsy are limited, biallelic_autosomal and undetermined (PMID:36600631). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03461.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease BSN-related epilepsy is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:36600631). The DDG2P confidence category for the disease BSN-related epilepsy is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:36600631).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
BSN-related epilepsy; MONDO:0005027

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • BSN-related epilepsy
OMIM
604020
Clinvar variants
Variants in BSN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: BSN was changed from Other to None

4 Oct 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

gene: BSN was added gene: BSN was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: BSN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: BSN were set to 36600631 Phenotypes for gene: BSN were set to BSN-related epilepsy Mode of pathogenicity for gene: BSN was set to Other