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| Fetal anomalies v0.161 | TBC1D20 | Rebecca Foulger edited their review of gene: TBC1D20: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.100 | TBC1D20 | Rebecca Foulger Classified gene: TBC1D20 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.100 | TBC1D20 | Rebecca Foulger Added comment: Comment on list classification: Changed rating from Amber to Green following comment from Deirdre Cilliers. Originally rated Amber based on multiple ratings in the PAGE upload. Sufficient cases (>3) from PMID:24239381 to support causation of Warburg micro syndrome 4 (MIM:615663), and Deirdre Cilliers confirms that phenotype is fetally-relevant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.100 | TBC1D20 | Rebecca Foulger Gene: tbc1d20 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.99 | TBC1D20 | Rebecca Foulger Publications for gene: TBC1D20 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.98 | TBC1D20 | Rebecca Foulger commented on gene: TBC1D20: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [TBC1D20 should be on the Fetal anomalies panel]. Many of the features would be seen on ultrasound scan. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | TBC1D20 | Rebecca Foulger Tag watchlist tag was added to gene: TBC1D20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | TBC1D20 | Rebecca Foulger commented on gene: TBC1D20: 'watchlist' tag added to highlight different DD-G2P ratings for this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | TBC1D20 | Rebecca Foulger reviewed gene: TBC1D20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | TBC1D20 |
Rebecca Foulger Source PAGE Additional Gene List was added to TBC1D20. Added phenotypes Warburg micro syndrome 4 615663 for gene: TBC1D20 |
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| Fetal anomalies v0.1 | TBC1D20 |
Rebecca Foulger gene: TBC1D20 was added gene: TBC1D20 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D20 were set to Warburg micro syndrome 4 |
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