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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.217 | ATG9A | Bryony Thompson Marked gene: ATG9A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.217 | ATG9A | Bryony Thompson Gene: atg9a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.217 | ATG9A |
Bryony Thompson gene: ATG9A was added gene: ATG9A was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: ATG9A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATG9A were set to 34794894; 30224786 Phenotypes for gene: ATG9A were set to Primary ovarian insufficiency Review for gene: ATG9A was set to RED Added comment: Single heterozygous case reported, with in vitro functional assay supporting a loss of function mechanism for the missense variant. Sources: Literature |
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