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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.275 | SPIDR | Zornitza Stark Phenotypes for gene: SPIDR were changed from Primary ovarian insufficiency to Ovarian dysgenesis 9, MIM# 619665 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.274 | SPIDR | Zornitza Stark reviewed gene: SPIDR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarian dysgenesis 9, MIM# 619665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.270 | SPIDR | Bryony Thompson Marked gene: SPIDR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.270 | SPIDR | Bryony Thompson Gene: spidr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.270 | SPIDR | Bryony Thompson Classified gene: SPIDR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.270 | SPIDR | Bryony Thompson Gene: spidr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.269 | SPIDR |
Bryony Thompson gene: SPIDR was added gene: SPIDR was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: SPIDR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPIDR were set to 34794894; 34697795; 27967308 Phenotypes for gene: SPIDR were set to Primary ovarian insufficiency Review for gene: SPIDR was set to AMBER Added comment: 3 POI cases from 2 unrelated families with homozygous nonsense variants, and in vitro functional assays demonstrating both variants alter SPIDR activity in homologous recombination. Sources: Literature |
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