Activity
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| Fetal anomalies v6.29 | POU3F3 | Arina Puzriakova reviewed gene: POU3F3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | POU3F3 | Natalie Chandler commented on gene: POU3F3: 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 | POU3F3 | Natalie Chandler reviewed gene: POU3F3: Rating: AMBER; Mode of pathogenicity: ; Publications: 37593446, 31303265; Phenotypes: Snijders Blok-Fisher syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | POU3F3 |
Arina Puzriakova gene: POU3F3 was added gene: POU3F3 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POU3F3 were set to 37593446; 31303265 Phenotypes for gene: POU3F3 were set to Snijders Blok-Fisher syndrome |
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