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Intellectual disability syndromic and non-syndromic

Gene: BSN

Green List (high evidence)

BSN (bassoon presynaptic cytomatrix protein)
EnsemblGeneIds (GRCh38): ENSG00000164061
EnsemblGeneIds (GRCh37): ENSG00000164061
OMIM: 604020, Gene2Phenotype
BSN is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Guzman et al 2025: Described 12 additional patients with missense (3/12) and premature termination variants (9/12) which included de novo and inherited variants, suggesting incomplete penetrance.

They assessed all reported patients (n=29) which revealed common clinical characteristics including epilepsy(13/29), febrile seizures (7/29), generalised tonic-clonic seizures (5/29), and focal-onset seizures (3/29). Behavioural phenotypes were present in almost half of all individuals (14/29), which included ADHD (7/29) and autistic behaviour (5/29). Additional common features included developmental delay (11/29), obesity (10/29), and delayed speech (8/29). In adults with BSN PTVs, milder features were common, suggesting phenotypic variability, including a range of individuals without obvious neurodevelopmental features (7/29).
Sources: Expert Review
Created: 1 Aug 2025, 6:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder (MONDO:0700092), BSN-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), BSN-related
OMIM
604020
Clinvar variants
Variants in BSN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Aug 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Aug 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Aug 2025, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BSN was added gene: BSN was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Mode of inheritance for gene: BSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BSN were set to 40393460 Phenotypes for gene: BSN were set to Neurodevelopmental disorder (MONDO:0700092), BSN-related Review for gene: BSN was set to GREEN