PanelApp (test)
  1. Genes and Genomic Entities
  2. STX3:Ensemblv90

STX3:Ensemblv90

syntaxin 3
OMIM: 600876, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green STX3 in Congenital Diarrhoea


Level 2: Gastroenterological disorders
Version 1.30

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microvillus inclusion disease, MIM#619445
  • Retinal dystrophy and microvillus inclusion disease, MIM#619446

Green STX3 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microvillus inclusion disease, MIM#619445
  • Retinal dystrophy and microvillus inclusion disease, MIM#619446

Green STX3 in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 0.235

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Retinal dystrophy and microvillus inclusion disease, MIM#619446

    Green STX3 in Congenital Diarrhoea


    Level 2: Gastroenterological disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Microvillus inclusion disease, MIM#619445
    • Retinal dystrophy and microvillus inclusion disease, MIM#619446

    Green STX3 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 1.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Expert Review Green
    Phenotypes
    • Retinal dystrophy and microvillus inclusion disease, MIM#619446