| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.386 | RECQL4 | Zornitza Stark Marked gene: RECQL4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.386 | RECQL4 | Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.368 | RECQL4 | Chirag Patel Classified gene: RECQL4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.368 | RECQL4 | Chirag Patel Gene: recql4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.367 | RECQL4 |
Chirag Patel gene: RECQL4 was added gene: RECQL4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genomics England PanelApp Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RECQL4 were set to 20301415, 10319867, 3138154 Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, MONDO:0010002 Review for gene: RECQL4 was set to GREEN Added comment: ClinGen definitive for Rothmund-Thomson syndrome (RTS). POI can be a feature of RTS. Sources: Genomics England PanelApp |
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