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Fetal anomalies v0.134 | RPL11 | Rebecca Foulger edited their review of gene: RPL11: 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 v0.9 | RPL11 | Rebecca Foulger commented on gene: RPL11: DDG2P rating in original PAGE list: Confirmed for Diamond-Blackfan anemia with cleft palate and abnormal thumbs. Confirmed for Diamond-Blackfan anemia 7 612562 from Additional Gene list. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | RPL11 | Rebecca Foulger reviewed gene: RPL11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | RPL11 |
Rebecca Foulger Source PAGE Additional Gene List was added to RPL11. Added phenotypes Diamond-Blackfan anemia 7 612562 for gene: RPL11 |
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Fetal anomalies v0.1 | RPL11 |
Rebecca Foulger gene: RPL11 was added gene: RPL11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia with cleft palate and abnormal thumbs |