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Fetal anomalies v0.311 | BFSP2 | Rebecca Foulger edited their review of gene: BFSP2: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Can be associated with congenital cataract- promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.310 | BFSP2 |
Rebecca Foulger Source Expert Review Green was added to BFSP2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Fetal anomalies v0.135 | BFSP2 |
Rebecca Foulger Source Expert Review Red was added to BFSP2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Fetal anomalies v0.134 | BFSP2 | Rebecca Foulger edited their review of gene: BFSP2: 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. Action taken: Demoted BFSP2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | BFSP2 | Rebecca Foulger commented on gene: BFSP2: DDG2P rating in original PAGE list: Confirmed for CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | BFSP2 | Rebecca Foulger reviewed gene: BFSP2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | BFSP2 |
Rebecca Foulger gene: BFSP2 was added gene: BFSP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BFSP2 were set to CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED |