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| Fetal anomalies v0.161 | RBPJ | Rebecca Foulger commented on gene: RBPJ: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.63 | RBPJ | Rebecca Foulger edited their review of gene: RBPJ: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Skeletal dysplasia' and 'Limb disorders' panels with the 'Adams-Oliver syndrome 3, 614219' phenotype. Sufficient cases to support causation: 2 families reported in OMIM from PMID:22883147, plus additional cases of RBPJ variants causing Adams-Oliver syndrome 3 in PMID:28160419.; Changed rating: GREEN; Changed publications: 22883147, 28160419; Changed phenotypes: Adams-Oliver syndrome 3, 614814 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.28 | RBPJ | Rebecca Foulger Classified gene: RBPJ as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.28 | RBPJ | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (ADAMS OLIVER SYNDROME) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). Although OMIM lists 2 unrelated cases, further cases supporting causation are provided in PMID:28160419, as detailed on the 'Limb disorders' panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.28 | RBPJ | Rebecca Foulger Gene: rbpj has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.27 | RBPJ | Rebecca Foulger Publications for gene: RBPJ were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.27 | RBPJ | Rebecca Foulger Mode of pathogenicity for gene: RBPJ was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | RBPJ | Rebecca Foulger commented on gene: RBPJ: DDG2P rating in original PAGE list: Probable for ADAMS OLIVER SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | RBPJ | Rebecca Foulger reviewed gene: RBPJ: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | RBPJ |
Rebecca Foulger gene: RBPJ was added gene: RBPJ was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RBPJ were set to ADAMS OLIVER SYNDROME |
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