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| Fetal anomalies v0.154 | PURA |
Rebecca Foulger Source Expert Review Red was added to PURA. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.153 | PURA | Rebecca Foulger edited their review of gene: PURA: 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: Phenotype is not fetally-relevant. Additional notes from clinical review: Nothing structural- delayed/hypomyelination only. Action taken: Demoted PURA gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PURA | Rebecca Foulger reviewed gene: PURA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PURA |
Rebecca Foulger gene: PURA was added gene: PURA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PURA were set to INTELLECTUAL DISABILITY |
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