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| Mendeliome v0.14686 | GDF9 | Zornitza Stark Marked gene: GDF9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14686 | GDF9 | Zornitza Stark Gene: gdf9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14686 | GDF9 | Zornitza Stark Phenotypes for gene: GDF9 were changed from to Premature ovarian failure 14, OMIM# 618014 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14685 | GDF9 | Zornitza Stark Publications for gene: GDF9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14684 | GDF9 | Zornitza Stark Mode of inheritance for gene: GDF9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14591 | GDF9 | Chirag Patel reviewed gene: GDF9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29044499, 8849725, 33036707; Phenotypes: Premature ovarian failure 14, OMIM# 618014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10103 | REC8 |
Bryony Thompson gene: REC8 was added gene: REC8 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: REC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: REC8 were set to 34794894; 15515002; 34707299 Phenotypes for gene: REC8 were set to Primary ovarian insufficiency Review for gene: REC8 was set to AMBER Added comment: PMID: 34707299 - a French POI case with compound het predicted loss of function variants PMID: 15515002 - Rec8-/- female mice demonstrated ovarian dysgenesis and lack of ovarian follicles at reproductive maturity. PMID: 27603904 - 2 sisters with POI segregating a missense in REC8 inherited from the unaffected mother (p.Gln154Arg) and a missense in GDF9 inherited from the father. Possible digenic inheritance. Sources: Literature |
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| Mendeliome v0.0 | GDF9 |
Zornitza Stark gene: GDF9 was added gene: GDF9 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GDF9 was set to Unknown |
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