CBX2 gene related symptoms and diseases
All the information presented here about the CBX2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CBX2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Sex reversal | Very Common - Between 80% and 100% cases |
| Neoplasm | Uncommon - Between 30% and 50% cases |
| Gonadal dysgenesis | Uncommon - Between 30% and 50% cases |
| True hermaphroditism | Uncommon - Between 30% and 50% cases |
| Ovotestis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CBX2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Testicular dysgenesis
- Abnormality of female external genitalia
- Perineal hypospadias
- Absence of secondary sex characteristics
- Gonadoblastoma
- Male pseudohermaphroditism
- Hypoplasia of the uterus
- Hypospadias
And 10 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CBX2 gene
Here you will find a list of rare diseases related to the CBX2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
46,XY COMPLETE GONADAL DYSGENESIS
Alternate names
46,XY COMPLETE GONADAL DYSGENESIS Is also known as 46,xy sex reversal, sry-related, 46,xy pure gonadal dysgenesis, 46,xy gonadal dysgenesis, complete, sry-related, 46,xy cgd, swyer syndrome
Description
46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.
Most common symptoms of 46,XY COMPLETE GONADAL DYSGENESIS
- Neoplasm
- Hypospadias
- Infertility
- Amenorrhea
- Primary amenorrhea
More info about 46,XY COMPLETE GONADAL DYSGENESIS
46,XY SEX REVERSAL 5; SRXY5
Alternate names
46,XY SEX REVERSAL 5; SRXY5 Is also known as 46,xy sex reversal, cbx2-related, sex reversal, xy, cbx2-related, disorder of sex development, 46,xy, cbx2-related, 46,xy gonadal dysgenesis, complete, cbx2-related
Most common symptoms of 46,XY SEX REVERSAL 5; SRXY5
- Sex reversal
- Elevated circulating follicle stimulating hormone level
More info about 46,XY SEX REVERSAL 5; SRXY5
Search interest in CBX2
Potential gene panels for CBX2 gene
Female Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panel United States.
Male Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panel United States.
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panel United States.
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panel United States.
qGenEx Sex development disorders Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qGenEx Sex development disorders that also includes the following genes: ROR2 SOX3 SOX9 SRD5A2 SRY STAR CEP41 TSPYL1 WNT4 WT1
More info about this panel Spain.
CBX2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CBX2 gene.
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
Nonsyndromic disorders of sexual development: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic disorders of sexual development: gene sequencing panel that also includes the following genes: SRD5A2 STAR CBX2 CYP11A1 CYP17A1 AKR1C2 HSD17B3 HSD3B2 ANOS1 AR
More info about this panel Canada.
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