CATSPER2 gene related symptoms and diseases

All the information presented here about the CATSPER2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CATSPER2 gene

Symptoms // Phenotype % Cases
Infertility Very Common - Between 80% and 100% cases
Male infertility Very Common - Between 80% and 100% cases
Reduced sperm motility Very Common - Between 80% and 100% cases
Moderate hearing impairment Uncommon - Between 30% and 50% cases
Abnormal spermatogenesis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CATSPER2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Congenital hypoplastic anemia
  • Anemia of inadequate production
  • Progressive sensorineural hearing impairment
  • Azoospermia
  • Narrow palpebral fissure
  • Bilateral sensorineural hearing impairment
  • Synophrys
  • Brachydactyly

And 11 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CATSPER2 gene

Here you will find a list of rare diseases related to the CATSPER2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPERMATOGENIC FAILURE 7; SPGF7


Alternate names

SPERMATOGENIC FAILURE 7; SPGF7 Is also known as miar, male infertility, nonsyndromic, autosomal recessive

Most common symptoms of SPERMATOGENIC FAILURE 7; SPGF7

  • Infertility
  • Male infertility
  • Oligospermia
  • Reduced sperm motility
  • Nonmotile sperm


More info about SPERMATOGENIC FAILURE 7; SPGF7

SOURCES: MESH OMIM

DEAFNESS-INFERTILITY SYNDROME


Alternate names

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility, chromosome 15q15.3 deletion syndrome, dis

Description

Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

Most common symptoms of DEAFNESS-INFERTILITY SYNDROME

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears


More info about DEAFNESS-INFERTILITY SYNDROME

SOURCES: ORPHANET MESH OMIM


Potential gene panels for CATSPER2 gene

NGS Hearing Loss Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Hearing Loss Panel that also includes the following genes: SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TJP2 TMPRSS3 USH1C USH2A

More info about this panel

OtoSCOPE Panel

United States.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1

More info about this panel

OtoGenome Test for Hearing Loss (110 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A

More info about this panel

Deafness and male infertility (sequence analysis of CATSPER2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CATSPER2 gene.

More info about this panel

Autosomal nonsyndromic male infertility Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CATSPER2 gene.

More info about this panel

Hearing Loss NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2

More info about this panel

CATSPER2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CATSPER2 gene.

More info about this panel

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel

United States.

By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2

More info about this panel


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