Activity
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8 actions
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| Fetal anomalies v6.121 | RIPPLY2 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: RIPPLY2. Tag Q3_25_NHS_review was removed from gene: RIPPLY2. |
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| Fetal anomalies v6.120 | RIPPLY2 | Achchuthan Shanmugasundram reviewed gene: RIPPLY2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.119 | RIPPLY2 |
Arina Puzriakova Source Expert Review Green was added to RIPPLY2. Source NHS GMS was added to RIPPLY2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.73 | RIPPLY2 |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: RIPPLY2. Tag Q3_25_NHS_review tag was added to gene: RIPPLY2. |
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| Fetal anomalies v6.29 | RIPPLY2 | Arina Puzriakova reviewed gene: RIPPLY2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | RIPPLY2 | Sahar Mansour commented on gene: RIPPLY2: 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 | RIPPLY2 | Sahar Mansour reviewed gene: RIPPLY2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32212228, 33410135, 25343988, 26238661; Phenotypes: Spondylocostal dysostosis 6, OMIM:616566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | RIPPLY2 |
Arina Puzriakova gene: RIPPLY2 was added gene: RIPPLY2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: RIPPLY2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIPPLY2 were set to 26238661; 25343988; 32212228; 33410135 Phenotypes for gene: RIPPLY2 were set to Spondylocostal dysostosis 6, OMIM:616566 |
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