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| Fetal anomalies v0.185 | WDR19 | Rebecca Foulger edited their review of gene: WDR19: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in WDR19 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | WDR19 | Rebecca Foulger edited their review of gene: WDR19: 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 | WDR19 | Rebecca Foulger commented on gene: WDR19: DDG2P rating in original PAGE list: Confirmed for CRANIOECTODERMAL DYSPLASIA 4 and Confirmed for ASPHYXIATING THORACIC DYSTROPHY 5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | WDR19 | Rebecca Foulger reviewed gene: WDR19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | WDR19 | Rebecca Foulger Added phenotypes ASPHYXIATING THORACIC DYSTROPHY 5 for gene: WDR19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | WDR19 |
Rebecca Foulger gene: WDR19 was added gene: WDR19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR19 were set to CRANIOECTODERMAL DYSPLASIA 4 |
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