STXBP3

syntaxin binding protein 3
OMIM: 608339, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green STXBP3 in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 1.0

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Inborn error of immunity, MONDO:0003778, STXBP3-related

    Green STXBP3 in Mendeliome


    Version 2.22

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Inborn error of immunity, MONDO:0003778, STXBP3-related

    Green STXBP3 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Inborn error of immunity, MONDO:0003778, STXBP3-related

    Green STXBP3 in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 3.1

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Inborn error of immunity, MONDO:0003778, STXBP3-related