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 8.78
Latest signed off version: v8.0 (30 Apr 2025)

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


Level 2: Endocrinology
Version 1.31
Latest signed off version: v1.0 (7 Aug 2024)

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