| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.74 | NUP107 | Bryony Thompson Marked gene: NUP107 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.74 | NUP107 | Bryony Thompson Gene: nup107 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.74 | NUP107 | Bryony Thompson Phenotypes for gene: NUP107 were changed from to Ovarian dysgenesis 6 MIM#618078; primary amenorrhea; hypogonadotrophic hypogonadism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.73 | NUP107 | Bryony Thompson Publications for gene: NUP107 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.72 | NUP107 | Bryony Thompson Mode of inheritance for gene: NUP107 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.71 | NUP107 | Bryony Thompson reviewed gene: NUP107: Rating: GREEN; Mode of pathogenicity: None; Publications: 32684853, 26485283, 29363275; Phenotypes: Ovarian dysgenesis 6 MIM#618078, primary amenorrhea, hypogonadotrophic hypogonadism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 | NUP107 |
Bryony Thompson Source Genetic Health QLD was added to NUP107. Mode of inheritance for gene NUP107 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown |
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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 | NUP107 |
Bryony Thompson gene: NUP107 was added gene: NUP107 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal |
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