BSN

bassoon presynaptic cytomatrix protein
OMIM: 604020, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green BSN in Mendeliome


Version 1.3098

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), BSN-related

Green BSN in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.202

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder (MONDO:0700092), BSN-related

    Green BSN in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.294

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Neurodevelopmental disorder (MONDO:0700092), BSN-related