| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.240 | BRCA2 | Bryony Thompson Marked gene: BRCA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.240 | BRCA2 | Bryony Thompson Gene: brca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.240 | BRCA2 | Bryony Thompson Classified gene: BRCA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.240 | BRCA2 | Bryony Thompson Gene: brca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.239 | BRCA2 |
Bryony Thompson gene: BRCA2 was added gene: BRCA2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRCA2 were set to 34794894; 30207912; 30865812 Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1 MIM#605724; premature ovarian failure Review for gene: BRCA2 was set to GREEN Added comment: 5 cases from 4 families with biallelic variants and POI PMID: 30207912 - 2 sisters with biallelic variants and ovarian dysgenesis as a feature of the condition. Also, supporting Drosophila model. PMID: 30865812 - premature ovarian insufficiency present in 2 unrelated cases with biallelic variants PMID: 32482800 - a homozygous hypomorphic BRCA2 variant in a patient with POI without cancer or FA Sources: Literature |
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