Activity
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10 actions
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| Fetal anomalies v0.226 | WNT3 | Rebecca Foulger Marked gene: WNT3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.226 | WNT3 | Rebecca Foulger Added comment: Comment when marking as ready: Marked WNT3 as ready following clinical review, and review of evidence. April 29th 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.226 | WNT3 | Rebecca Foulger Gene: wnt3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.226 | WNT3 |
Rebecca Foulger Source Expert Review Amber was added to WNT3. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.225 | WNT3 | Rebecca Foulger commented on gene: WNT3: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 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: Phenotype is fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Currently insufficient evidence for fetally-relevant Tetra-Amelia syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.164 | WNT3 | Rebecca Foulger Publications for gene: WNT3 were set to 14872406 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.163 | WNT3 | Rebecca Foulger commented on gene: WNT3: Despite a disease confidence rating of 'confirmed' in DDG2P, there is limited evidence for the association of WNT3 with Tetra-Amelia syndrome: 2 fetuses from 1 consanguineous Turkish family were reported in PMID:14872406 (2004). PMID:16283889 and PMID:18837045 ruled out WNT3 as a cause for tetra-amelia in their cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.160 | WNT3 | Rebecca Foulger Publications for gene: WNT3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WNT3 | Rebecca Foulger reviewed gene: WNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | WNT3 |
Rebecca Foulger gene: WNT3 was added gene: WNT3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT3 were set to TETRA-AMELIA SYNDROME |
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