Submission Details


male infertility with azoospermia or oligozoospermia due to single gene mutation
Mode Of Inheritance:
Autosomal recessive
Evaluated Date:
Alhathal et al., 2020 (PMID: 32719396) reported two LOF variants in two independent families with male infertility from a large cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Strong with total score of 12. Aggregate-variant analysis (6 points), experimental evidence: Animal model (4 points) (PMID: 30305635) /Protein interaction (1 point) with XRCC2. A known male infertility gene in the humans (PMID: 30042186; PubMed: 16710300) and testicular expression (1 points) (MGI:1916997).
PubMed IDs:
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Submitter Submitted Date:

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