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| Mendeliome v2.50 | MEIOSIN |
Sangavi Sivagnanasundram gene: MEIOSIN was added gene: MEIOSIN was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MEIOSIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MEIOSIN were set to 42177587; 37982418 Phenotypes for gene: MEIOSIN were set to MEIOSIN-related premature ovarian insufficiency (POI) MONDO:0005047 Review for gene: MEIOSIN was set to AMBER Added comment: PMID: 379882418 - A female proband from a consanguineous family with POI. Homozygous missense variant - R579W (singleton - AF 0.0004%). Her sisters are heterozygous carriers for this variant and were clinically unaffected. PMID: 42177587 - Two Chinese sisters from non-consanguineous parents presenting with POI. Compound heterozygous variants identified in trans Leu327Pro; His356fs*14 - both variants absent from gnomAD v4.1. Supportive functional assays (dual‑luciferase reporter) show reduced transcriptional activation of meiotic genes, and a knock‑in mouse model carrying the homozygous variant recapitulates infertility, supporting a loss‑of‑function mechanism however, further evidence is required to definitely support the mechanism of disease. There is no Morbid OMIM entry for this gene disease association. Only one variant in this gene has been reported in ClinVar (p.Ser462_Ser465dup, has been classified as likely Benign). According to GTex, this gene is highly expressed in the testis but has low expression in the ovaries. Remain as AMBER pending further evidence. Sources: Literature |
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