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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 |