Activity
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8 actions
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Fetal anomalies v0.4675 | PIGH | Zornitza Stark Classified gene: PIGH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4675 | PIGH | Zornitza Stark Gene: pigh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4674 | PIGH | Zornitza Stark reviewed gene: PIGH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4674 | PIGH | Zornitza Stark Marked gene: PIGH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4674 | PIGH | Zornitza Stark Gene: pigh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4674 | PIGH | Zornitza Stark Classified gene: PIGH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4674 | PIGH | Zornitza Stark Gene: pigh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4546 | PIGH |
Belinda Chong gene: PIGH was added gene: PIGH was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGH were set to 29573052; 33156547; 29603516 Phenotypes for gene: PIGH were set to Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010 Review for gene: PIGH was set to AMBER gene: PIGH was marked as current diagnostic Added comment: Microcephaly appears to present at postnatal in these individuals. Three further families reported, including two sibs with microcephaly. Sources: Literature |