| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.232 | INSL3 | Bryony Thompson Marked gene: INSL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.232 | INSL3 | Bryony Thompson Gene: insl3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.232 | INSL3 | Bryony Thompson Classified gene: INSL3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.232 | INSL3 | Bryony Thompson Gene: insl3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.231 | INSL3 |
Bryony Thompson gene: INSL3 was added gene: INSL3 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: INSL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INSL3 were set to 34794894; 33095795; 10391220; 30204868 Phenotypes for gene: INSL3 were set to Primary ovarian insufficiency Review for gene: INSL3 was set to AMBER Added comment: A single case with POI with a homozygous missense variant (p.Val18Met, 3 homozygotes in gnomAD v2.1). Additionally, female null mouse have impaired fertility associated with deregulation of the oestrous cycle Sources: Literature |
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