Submission Details

Submitter:

Classification:
Moderate
GENCC:100003
Gene:
Disease:
female infertility
Mode Of Inheritance:
Autosomal recessive
Evaluated Date:
08/01/2020
Evidence/Notes:
whole-exome sequencing (WES) to identify four homozygous pathogenic variants in BTG4 that are responsible for human ZCF in four independent families. In vivo studies further demonstrated that the process of maternal mRNA decay was disrupted in the zygotes of the affected individuals. https://doi.org/10.1016/j.ajhg.2020.05.010
PubMed IDs:
32502391
Public Report:
Assertion Criteria:
Submitter Submitted Date:
01/19/2021

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