SEPT12 gene related symptoms and diseases

All the information presented here about the SEPT12 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SEPT12 gene

Symptoms // Phenotype % Cases
Infertility Uncommon - Between 30% and 50% cases
Abnormal sperm morphology Uncommon - Between 30% and 50% cases

Rare diseases associated to SEPT12 gene

Here you will find a list of rare diseases related to the SEPT12. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPERMATOGENIC FAILURE 10; SPGF10

Alternate names

SPERMATOGENIC FAILURE 10; SPGF10 Is also known as spermatogenic failure with defective sperm annulus

Description

Spermatogenic failure-10 is associated with a defective annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail. The firm attachment of the annulus to the flagellar membrane suggests that it may supply mechanical support and prevent displacement of the caudal mitochondrial helix (summary by Kuo et al., 2012).For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (OMIM ).

Most common symptoms of SPERMATOGENIC FAILURE 10; SPGF10

  • Infertility
  • Abnormal sperm morphology


More info about SPERMATOGENIC FAILURE 10; SPGF10

SOURCES: OMIM

NON-SYNDROMIC MALE INFERTILITY DUE TO SPERM MOTILITY DISORDER

Alternate names

NON-SYNDROMIC MALE INFERTILITY DUE TO SPERM MOTILITY DISORDER Is also known as non-syndromic male infertility due asthenozoospermia

Description

Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present.


More info about NON-SYNDROMIC MALE INFERTILITY DUE TO SPERM MOTILITY DISORDER

SOURCES: ORPHANET


Potential gene panels for SEPT12 gene

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.

SEPT12 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SEPT12 gene.

More info about this panel
United States.

SEPT12 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SEPT12 gene.

More info about this panel
United States.

Spermatogenic Failure , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Spermatogenic Failure , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: AURKC USP9Y CATSPER1 SYCP3 KLHL10 DPY19L2 SEPT12 SPATA16 NR5A1

More info about this panel
Spain.

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