| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.153 | PEX26 | Rebecca Foulger edited their review of gene: PEX26: 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: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.153 | PEX2 | Rebecca Foulger edited their review of gene: PEX2: 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: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PEX26 | Rebecca Foulger reviewed gene: PEX26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PEX2 | Rebecca Foulger reviewed gene: PEX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PEX26 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 8 for gene: PEX26 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PEX26 | Rebecca Foulger Added phenotypes ADRENOLEUKODYSTROPHY NEONATAL for gene: PEX26 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PEX26 | Rebecca Foulger Added phenotypes ZELLWEGER SYNDROME for gene: PEX26 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PEX26 |
Rebecca Foulger gene: PEX26 was added gene: PEX26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX26 were set to INFANTILE REFSUM DISEASE |
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| Fetal anomalies v0.1 | PEX2 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5 for gene: PEX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PEX2 | Rebecca Foulger Added phenotypes INFANTILE REFSUM DISEASE for gene: PEX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PEX2 |
Rebecca Foulger gene: PEX2 was added gene: PEX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX2 were set to ZELLWEGER SYNDROME |
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