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.
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 |
And 11 more phenotypes, you can get all of them using our tools for rare diseases.
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 Is also known as miar, male infertility, nonsyndromic, autosomal recessive
DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility, chromosome 15q15.3 deletion syndrome, dis
Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.
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 panelBy 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 panelBy 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 panelBy CGC Genetics
This panel specifically test the CATSPER2 gene.
More info about this panelBy Centogene AG - the Rare Disease Company
This panel specifically test the CATSPER2 gene.
More info about this panelBy 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 panelBy Fulgent Genetics Fulgent Genetics
This panel specifically test the CATSPER2 gene.
More info about this panelBy 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
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