1. Genes and Genomic Entities
  2. STX5

STX5

syntaxin 5
OMIM: 603189, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red STX5 in Congenital disorders of glycosylation


Level 2: Metabolic
Version 7.13
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • ?Congenital disorder of glycosylation, type IIaa, OMIM:620454
    Green STX5 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Congenital disorder of glycosylation, type IIaa, OMIM:620454