Submission Details

Submitter:

Classification:
Moderate
GENCC:100003
Gene:
Disease:
female infertility due to oocyte meiotic arrest
Mode Of Inheritance:
Autosomal recessive
Evaluated Date:
08/01/2020
Evidence/Notes:
Identified homozygous and compound heterozygous missense pathogenic variants in TRIP13 responsible for female infertility mainly characterized by oocyte meiotic arrest in five individuals from four independent families. In vitro and in vivo studies showed that the identified variants reduced the protein abundance of TRIP13 and caused its downstream molecule, HORMAD2, to accumulate in HeLa cells and in proband-derived lymphoblastoid cells. https://doi.org/10.1016/j.ajhg.2020.05.001
Public Report:
Assertion Criteria:
Submitter Submitted Date:
01/19/2021

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