| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.271 | UBR2 | Bryony Thompson Marked gene: UBR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.271 | UBR2 | Bryony Thompson Gene: ubr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.271 | UBR2 |
Bryony Thompson gene: UBR2 was added gene: UBR2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: UBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UBR2 were set to 33095795; 34794894 Phenotypes for gene: UBR2 were set to Primary ovarian failure Review for gene: UBR2 was set to RED Added comment: Single POI case with a heterozygous missense variant (p.Ser1615Thr). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||