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Fetal anomalies v0.1838 GBE1 Zornitza Stark Marked gene: GBE1 as ready
Fetal anomalies v0.1838 GBE1 Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1838 GBE1 Zornitza Stark Publications for gene: GBE1 were set to 21620786
Fetal anomalies v0.1837 GBE1 Zornitza Stark Deleted their comment
Fetal anomalies v0.1837 GBE1 Zornitza Stark edited their review of gene: GBE1: Added comment: Three unrelated families reported with severe prenatal presentation of this muscle disorder causing fetal akinesia.; Changed rating: GREEN; Changed publications: 30303820; Changed phenotypes: Glycogen storage disease IV, MIM#232500, Fetal akinesia
Fetal anomalies v0.0 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 21620786
Phenotypes for gene: GBE1 were set to Fetal akinesia deformation sequence; Glycogen storage disease IV, OMIM:232500