Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: EXO1
1. PMID:39595984- heterozygous nonsense variant (p.Glu829Ter) in an European female with diminished ovarian reserve
2. PMID:32772095- heterozygous missense variant (p.Thr52Ser) in a Chinese patient with POI, which impaired the meiotic process in budding yeast cells and analysis of transfected HEK293 cells demonstrated impaired efficiency of homologous recombination repair for DNA double-stranded breaks with the mutant compared to wildtype EXO1
3. PMID:36385415- heterozygous nonsense variant (p.Tyr742Ter) in a case (C23) with recurrent pregnancy loss (RPL), primary infertility (PI), recurrent implantation failure (RIF)
Sources: LiteratureCreated: 2 Apr 2025, 8:40 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Primary ovarian failure, MONDO:0005387, EXO1-related
Publications
Gene: exo1 has been classified as Green List (High Evidence).
Gene: exo1 has been classified as Green List (High Evidence).
gene: EXO1 was added gene: EXO1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: EXO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EXO1 were set to 39595984; 32772095; 36385415 Phenotypes for gene: EXO1 were set to Primary ovarian failure, MONDO:0005387, EXO1-related Review for gene: EXO1 was set to GREEN