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| Fetal anomalies v0.311 | SMPD1 | Rebecca Foulger edited their review of gene: SMPD1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Green on the Fetal hydrops panel. Promote to Green on the Fetal anomalies panel. Mentioned in review of causes of Non immune hydrops.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.310 | SMPD1 |
Rebecca Foulger Source Expert Review Green was added to SMPD1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.165 | SMPD1 |
Rebecca Foulger Source Expert Review Red was added to SMPD1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.161 | SMPD1 | Rebecca Foulger edited their review of gene: SMPD1: 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 SMPD1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SMPD1 | Rebecca Foulger reviewed gene: SMPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SMPD1 | Rebecca Foulger Added phenotypes NIEMANN-PICK DISEASE TYPE B for gene: SMPD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SMPD1 |
Rebecca Foulger gene: SMPD1 was added gene: SMPD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMPD1 were set to NIEMANN-PICK DISEASE TYPE A |
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