| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.243 | C14orf39 | Bryony Thompson Classified gene: C14orf39 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.243 | C14orf39 | Bryony Thompson Gene: c14orf39 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.242 | C14orf39 | Bryony Thompson reviewed gene: C14orf39: Rating: GREEN; Mode of pathogenicity: None; Publications: 34718620, 33508233, 27796301; Phenotypes: Premature ovarian failure 18, MIM# 619203; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.188 | C14orf39 | Zornitza Stark Phenotypes for gene: C14orf39 were changed from Premature ovarian insufficiency to Premature ovarian failure 18, MIM# 619203 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.187 | C14orf39 | Zornitza Stark reviewed gene: C14orf39: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Premature ovarian failure 18, MIM# 619203; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.187 | C14orf39 | Zornitza Stark Marked gene: C14orf39 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.187 | C14orf39 | Zornitza Stark Gene: c14orf39 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.187 | C14orf39 | Zornitza Stark Classified gene: C14orf39 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.187 | C14orf39 | Zornitza Stark Gene: c14orf39 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.186 | C14orf39 |
Elena Savva gene: C14orf39 was added gene: C14orf39 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: C14orf39 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C14orf39 were set to PMID: 33508233; 27796301 Phenotypes for gene: C14orf39 were set to Premature ovarian insufficiency Review for gene: C14orf39 was set to AMBER Added comment: PMID: 33508233 - 1 family with two males (azoospermia) and 1 female (premature ovarian insufficiency) with a homozygous PTC PMID: 27796301 - Mouse K/O had ovarian failure Sources: Literature |
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