PanelApp
  1. Genes and Genomic Entities
  2. STX5

STX5

syntaxin 5
OMIM: 603189, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber STX5 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.60

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • congenital disorder of glycosylation MONDO#0015286, STX5-related

    Amber STX5 in Mendeliome


    Version 1.2374

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • congenital disorder of glycosylation MONDO#0015286, STX5-related

    Amber STX5 in Fetal anomalies


    Version 1.314

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • congenital disorder of glycosylation MONDO#0015286, STX5-related