CBX2

chromobox 2
OMIM: 602770, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red CBX2 in Differences in sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.6
Latest signed off version: v4.5 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Gender Assignment Gene Panel (UKGTN)
  • 46XY sex reversal 5, 613080