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Fetal anomalies v0.151 | PRPS1 |
Rebecca Foulger Source Expert Review Red was added to PRPS1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Fetal anomalies v0.150 | PRPS1 | Rebecca Foulger edited their review of gene: PRPS1: 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: Seems progressive. Action taken: Demoted PRPS1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PRPS1 | Rebecca Foulger commented on gene: PRPS1: DDG2P rating in original PAGE list: Confirmed for CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5, Confirmed for DEAFNESS X-LINKED TYPE 1, Confirmed for PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY and Confirmed for ARTS SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | PRPS1 | Rebecca Foulger reviewed gene: PRPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | PRPS1 | Rebecca Foulger Added phenotypes ARTS SYNDROME for gene: PRPS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | PRPS1 | Rebecca Foulger Added phenotypes PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY for gene: PRPS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | PRPS1 | Rebecca Foulger Added phenotypes DEAFNESS X-LINKED TYPE 1 for gene: PRPS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | PRPS1 |
Rebecca Foulger gene: PRPS1 was added gene: PRPS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PRPS1 were set to CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 |