QSOX2

quiescin sulfhydryl oxidase 2
OMIM: 612860, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber QSOX2 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 9.92
Latest signed off version: v9.91 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Maharaj Storr Syndrome
Amber QSOX2 in Monogenic short stature


Level 2: Endocrinology
Version 2.9
Latest signed off version: v2.8 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Maharaj Storr Syndrome