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.

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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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM MESH


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

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

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

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

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

CBX2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CBX2 gene.

More info about this panel

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

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


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