Activity
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4 actions
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| Fetal anomalies v6.29 | PIGQ | Arina Puzriakova reviewed gene: PIGQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | PIGQ | Esther Kinning commented on gene: PIGQ: 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 | PIGQ | Esther Kinning reviewed gene: PIGQ: Rating: AMBER; Mode of pathogenicity: ; Publications: 24463883, 31148362, 25558065, 32588908; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | PIGQ |
Arina Puzriakova gene: PIGQ was added gene: PIGQ was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: PIGQ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGQ were set to 24463883; 25558065; 31148362; 32588908 Phenotypes for gene: PIGQ were set to Multiple congenital anomalies-hypotonia-seizures syndrome 4 |
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