Disorders of sex development
Gene: CBX2Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Only two variants reported in one compound heterozygous case.Created: 13 Sep 2016, 7:46 a.m.
Very limited number of individuals with CBX2 variants reported. May also affect a CBX.2 isoform so some care needed here to know which is importantCreated: 4 Feb 2016, 2:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes from OMIM.Created: 11 Jan 2016, 10:26 a.m.
Promoted to V1 21/12/2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for CBX2 were set to 23219007; 19361780
Phenotypes for gene CBX2 were set to Gender Assignment Gene Panel (UKGTN); 46XY sex reversal 5, 613080
CBX2 was added to Disorders of sex developmentpanel. Sources: UKGTN,Other,Radboud University Medical Center, Nijmegen
CBX2All sources for gene: CBX2 were removed
CBX2 was added to Disorders of sex developmentpanel. Source: UKGTN
CBX2 was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene CBX2 was set to BIALLELIC, autosomal or pseudoautosomal
CBX2 was added to Disorders of sex developmentpanel. Sources: UKGTN,Other
CBX2 was created by ellenmcdonagh