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Mendeliome v1.1493 | MEIOB | Zornitza Stark Phenotypes for gene: MEIOB were changed from Spermatogenic failure 22 MIM#617706; primary ovarian insufficiency to Spermatogenic failure 22 MIM#617706; Premature ovarian failure 23, MIM# 620686 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.1492 | MEIOB | Zornitza Stark Publications for gene: MEIOB were set to 34794894; 24068956; 31000419; 28206990 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.1491 | MEIOB | Zornitza Stark reviewed gene: MEIOB: Rating: GREEN; Mode of pathogenicity: None; Publications: 35991565, 34392356, 31000419; Phenotypes: Premature ovarian failure 23, MIM# 620686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.14471 | MEIOB | Zornitza Stark Marked gene: MEIOB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.14471 | MEIOB | Zornitza Stark Gene: meiob has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.10089 | MEIOB | Bryony Thompson Classified gene: MEIOB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.10089 | MEIOB | Bryony Thompson Gene: meiob has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.10088 | MEIOB |
Bryony Thompson gene: MEIOB was added gene: MEIOB was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MEIOB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MEIOB were set to 34794894; 24068956; 31000419; 28206990 Phenotypes for gene: MEIOB were set to Spermatogenic failure 22 MIM#617706; primary ovarian insufficiency Review for gene: MEIOB was set to GREEN Added comment: At least 6 cases in 3 families, plus a mouse model for spermatogenic failure. A single family and a mouse model for POI. PMID: 28206990 - 4 infertile brothers with a homozygous missense variant. PMID: 32741963 - 2 unrelated males with complete spermatocytic arrest and homozygous truncating variants. PMID: 24068956 - infertile male and female null mouse model. PMID: 31000419 - Single family with a homozygous splicing variant in 2 sisters with POI. Sources: Literature |