Spermatogenic Failure 9; Spgf9

Description

Spermatogenic failure-9 is associated with globozoospermia, a rare phenotype of primary male infertility characterized by the production of a majority of round-headed spermatozoa without an acrosome (summary by Harbuz et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Spermatogenic Failure 9; Spgf9

  • Spontaneous abortion
  • Globozoospermia

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Spermatogenic Failure 9; Spgf9 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
DPY19L2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

DPY19L2
Specificity
100 %
Genes
100 %
Spermatogenic failure 9 (SPGF9, sequence analysis of DPY19L2 gene).

By CGC Genetics in Portugal.

DPY19L2
Specificity
100 %
Genes
100 %
SPGF9.

By Centogene AG - the Rare Disease Company in Germany.

DPY19L2
Specificity
100 %
Genes
100 %
DPY19L2.

By Fulgent Genetics Fulgent Genetics in United States.

DPY19L2
Specificity
100 %
Genes
100 %
Male Infertility due to Globozoospermia , Sequencing DPY19L2.

By Reference Laboratory Genetics in Spain.

DPY19L2
Specificity
100 %
Genes
100 %
Spermatogenic Failure , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

SYCP3, NR5A1, SPATA16, DPY19L2, AURKC, CATSPER1, KLHL10, SEPT12, USP9Y
Specificity
12 %
Genes
100 %
Phosphorus Male Infertility Panel.

By Phosphorus Diagnostics LLC in United States.

AR, CFTR, SRY, LHCGR, FSHR, FSHB, DPY19L2, AURKC, CATSPER1, USP9Y
Specificity
10 %
Genes
100 %

Alternate names

Spermatogenic Failure 9; Spgf9 Is also known as globozoospermia, complete, globozoospermia, total.



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