| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.274 | XRCC4 | Bryony Thompson Marked gene: XRCC4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.274 | XRCC4 | Bryony Thompson Gene: xrcc4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.274 | XRCC4 |
Bryony Thompson gene: XRCC4 was added gene: XRCC4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XRCC4 were set to 25742519; 34794894 Phenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction MIM#616541 Review for gene: XRCC4 was set to RED Added comment: A single female case with a homozygous variant has been reported with hypogonadism as a feature of the condition. Sources: Literature |
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