Submission Details


Disputed Evidence
male infertility with azoospermia or oligozoospermia due to single gene mutation
Mode Of Inheritance:
Autosomal recessive
Evaluated Date:
Convincing evidence disputing a role for this gene is this disease has arisen since the initial report identifying a gene for Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy (PMID:12244316). Alhathal et al., 2020 (PMID: 32719396) reported two unique variants (including nonesense and missense) in male infertility cohort and none of them having brain involvement (PMID: 32719396).
PubMed IDs:
Public Report:
Assertion Criteria:
Submitter Submitted Date:

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