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| Fetal anomalies v1.708 | GBE1 | Arina Puzriakova Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV; Polyglucosan body disease, adult form; Fetal akinesia deformation sequence to Glycogen storage disease IV, OMIM:232500; Fetal akinesia deformation sequence | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.301 | GBE1 | Rebecca Foulger Publications for gene: GBE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.299 | GBE1 | Anna de Burca Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV; Polyglucosan body disease, adult form to Glycogen storage disease IV; Polyglucosan body disease, adult form; Fetal akinesia deformation sequence | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.298 | GBE1 | Anna de Burca reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620786; Phenotypes: Fetal akinesia deformation sequence; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | GBE1 | Rebecca Foulger edited their review of gene: GBE1: 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 | GBE1 | Rebecca Foulger reviewed gene: GBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | GBE1 | Rebecca Foulger Added phenotypes Polyglucosan body disease, adult form for gene: GBE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | GBE1 |
Rebecca Foulger gene: GBE1 was added gene: GBE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBE1 were set to Glycogen storage disease IV |
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