STXBP3

syntaxin binding protein 3
OMIM: 608339, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green STXBP3 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Very Early Onset Inflammatory Bowel Disease
  • Sensorineural hearing loss
  • Syntaxin binding protein 3 defect
Tags
  • gene-checked
Amber STXBP3 in Monogenic hearing loss


Level 2: Audiology
Version 5.57
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Expert Review Amber
    Phenotypes
    • Very Early Onset Inflammatory Bowel Disease
    • Sensorineural hearing loss