Activity
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9 actions
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| Fetal anomalies v6.121 | PIGW |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PIGW. Tag Q3_25_NHS_review was removed from gene: PIGW. |
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| Fetal anomalies v6.120 | PIGW | Achchuthan Shanmugasundram reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.119 | PIGW |
Arina Puzriakova Source Expert Review Green was added to PIGW. Source NHS GMS was added to PIGW. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.67 | PIGW | Arina Puzriakova Phenotypes for gene: PIGW were changed from Glycosylphosphatidylinositol biosynthesis defect 11 to Glycosylphosphatidylinositol biosynthesis defect 11, OMIM:616025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.66 | PIGW |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PIGW. Tag Q3_25_NHS_review tag was added to gene: PIGW. |
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| Fetal anomalies v6.29 | PIGW | Arina Puzriakova reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | PIGW | Sahar Mansour commented on gene: PIGW: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.24 | PIGW | Sahar Mansour reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: ; Publications: 40180615; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | PIGW |
Arina Puzriakova gene: PIGW was added gene: PIGW was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: PIGW was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGW were set to 40180615 Phenotypes for gene: PIGW were set to Glycosylphosphatidylinositol biosynthesis defect 11 |
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