Differences of Sex Development
Gene: CBX2

CBX2 (chromobox 2)
EnsemblGeneIds (GRCh38): ENSG00000173894
EnsemblGeneIds (GRCh37): ENSG00000173894
OMIM: 602770, Gene2Phenotype
CBX2 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single report plus contradictory evidence.
Created: 15 Jul 2020, 5:31 a.m. | Last Modified: 15 Jul 2020, 5:31 a.m.

Panel Version: 0.76

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
46XY sex reversal 5, MIM# 613080

Created: 15 Jul 2020, 5:31 a.m.
Last Modified: 15 Jul 2020, 5:31 a.m.
Panel version: 0.76

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 19361780 - an XY girl with female genitalia including a uterus and ovaries.

PMID: 31719618 - no patients, functional studies on CBX2 function using siRNA and overexpression experiments.

PMID: 23219007 - many patients with DSD carry a mutation in the promoter shown to be a common SNP (gnomAD). Another reported variant p.Pro471Ala, is also highly present in the population (>1300 heterozygotes, 1 homozygote).

Summary: single patient and functional studies
Created: 15 Jul 2020, 1:09 a.m. | Last Modified: 15 Jul 2020, 1:09 a.m.

Panel Version: 0.69

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?46XY sex reversal 5 613080

Publications

Created: 15 Jul 2020, 1:09 a.m.
Last Modified: 15 Jul 2020, 1:09 a.m.
Panel version: 0.69

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

46XY sex reversal 5, MIM# 613080

OMIM

602770

Clinvar variants

Variants in CBX2

Penetrance

None

Publications

Panels with this gene