STX3

syntaxin 3
OMIM: 600876, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green STX3 in Intestinal failure or congenital diarrhoea


Level 2: Gastrohepatology
Version 3.7
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diarrhea 12, with microvillus atrophy, OMIM:619445
  • Retinal dystrophy and microvillus inclusion disease, OMIM:619446
Red STX3 in Intellectual disability


Level 2: Developmental disorders
Version 9.285
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review Unknown
    Sources
    • Other
    Tags
    • watchlist
    Green STX3 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Retinal dystrophy and microvillus inclusion disease, OMIM:619446