| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.3018 | PIGY | Zornitza Stark Marked gene: PIGY as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3018 | PIGY | Zornitza Stark Gene: pigy has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3018 | PIGY | Zornitza Stark Phenotypes for gene: PIGY were changed from Glycosylphosphatidylinositol deficiency to Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3017 | PIGY | Zornitza Stark Publications for gene: PIGY were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3016 | PIGY |
Zornitza Stark changed review comment from: Two unrelated families only; variable phenotype described. One family had a promoter region homozygous variant.; to: Two unrelated families only; variable phenotype described. One family had a promoter region homozygous variant. Joint contractures, microcephaly, cataracts and other ultrasound-detectable abnormalities reported. |
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| Fetal anomalies v0.0 | PIGY |
Zornitza Stark gene: PIGY was added gene: PIGY was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PIGY was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGY were set to Glycosylphosphatidylinositol deficiency |
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