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| Fetal anomalies v1.825 | PSMB8 | Arina Puzriakova Phenotypes for gene: PSMB8 were changed from NAKAJO SYNDROME to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.151 | PSMB8 |
Rebecca Foulger Source Expert Review Red was added to PSMB8. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.150 | PSMB8 | Rebecca Foulger edited their review of gene: PSMB8: 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 PSMB8 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PSMB8 | Rebecca Foulger commented on gene: PSMB8: DDG2P rating in original PAGE list: Confirmed for NAKAJO SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | PSMB8 | Rebecca Foulger reviewed gene: PSMB8: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PSMB8 |
Rebecca Foulger gene: PSMB8 was added gene: PSMB8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSMB8 were set to NAKAJO SYNDROME |
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