Submission Details

Submitter:

Classification:
Moderate
GENCC:100003
Gene:
Disease:
male infertility with azoospermia or oligozoospermia due to single gene mutation
Mode Of Inheritance:
Autosomal recessive
Evaluated Date:
03/06/2021
Evidence/Notes:
Alhathal et al., 2020 (PMID: 32719396) reported a LOF variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Moderate with total score of 8. Single variant segregation (3 points), experimental evidence: Animal model (4 points) (Tbccd1tm1b(EUCOMM)Hmgu) and testicular expression (1 points) (PMID: 20168327).
PubMed IDs:
32719396
Public Report:
Assertion Criteria:
Submitter Submitted Date:
03/06/2021

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