Activity
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9 actions
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| Fetal anomalies v6.121 | PUS3 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PUS3. Tag Q3_25_NHS_review was removed from gene: PUS3. |
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| Fetal anomalies v6.120 | PUS3 | Achchuthan Shanmugasundram reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.119 | PUS3 |
Arina Puzriakova Source Expert Review Green was added to PUS3. Source NHS GMS was added to PUS3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.72 | PUS3 | Arina Puzriakova Phenotypes for gene: PUS3 were changed from Neurodevelopmental disorder with microcephaly and gray sclerae to Neurodevelopmental disorder with microcephaly and gray sclerae, OMIM:617051 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.71 | PUS3 |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PUS3. Tag Q3_25_NHS_review tag was added to gene: PUS3. |
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| Fetal anomalies v6.29 | PUS3 | Arina Puzriakova reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | PUS3 | Elizabeth Scotchman commented on gene: PUS3: 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 | PUS3 | Elizabeth Scotchman reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27055666, 30697592, 31444731, 39891418, 30308082; Phenotypes: Neurodevelopmental disorder with microcephaly and gray sclerae; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | PUS3 |
Arina Puzriakova gene: PUS3 was added gene: PUS3 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: PUS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS3 were set to 31444731; 39891418; 30308082; 30697592; 27055666 Phenotypes for gene: PUS3 were set to Neurodevelopmental disorder with microcephaly and gray sclerae |
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