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| Fetal anomalies v0.167 | QDPR |
Rebecca Foulger Source Expert Review Red was added to QDPR. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.166 | QDPR | Rebecca Foulger edited their review of gene: QDPR: Added comment: This gene and phenotype were discussed during review of borderline cases in 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 not fetally-relevant. Additional notes from clinical review: Although not explicitly stated, microcephaly is implied to be progressive. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | QDPR | Rebecca Foulger reviewed gene: QDPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | QDPR |
Rebecca Foulger gene: QDPR was added gene: QDPR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: QDPR were set to BH4-DEFICIENT HYPERPHENYLALANINEMIA C |
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