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 0.122

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Very Early Onset Inflammatory Bowel Disease
    • Bilateral Sensorineural Hearing Loss
    • Immune Dysregulation

    Green STXBP3 in Mendeliome


    Version 1.2302

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Very Early Onset Inflammatory Bowel Disease
    • Bilateral Sensorineural Hearing Loss
    • Immune Dysregulation

    Green STXBP3 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.210

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Very Early Onset Inflammatory Bowel Disease
    • Bilateral Sensorineural Hearing Loss
    • Immune Dysregulation

    Green STXBP3 in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 2.3

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Very Early Onset Inflammatory Bowel Disease
    • Bilateral Sensorineural Hearing Loss
    • Immune Dysregulation