Activity
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8 actions
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| Fetal anomalies v6.121 | RPL26 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: RPL26. Tag Q3_25_NHS_review was removed from gene: RPL26. |
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| Fetal anomalies v6.120 | RPL26 | Achchuthan Shanmugasundram reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.119 | RPL26 |
Arina Puzriakova Source Expert Review Green was added to RPL26. Source NHS GMS was added to RPL26. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.73 | RPL26 |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: RPL26. Tag Q3_25_NHS_review tag was added to gene: RPL26. |
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| Fetal anomalies v6.29 | RPL26 | Arina Puzriakova reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | RPL26 | Elizabeth Wall commented on gene: RPL26: 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 | RPL26 | Elizabeth Wall reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: 22431104, 39268718; Phenotypes: Diamond-Blackfan anaemia 11, OMIM:614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | RPL26 |
Arina Puzriakova gene: RPL26 was added gene: RPL26 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL26 were set to 22431104; 39268718 Phenotypes for gene: RPL26 were set to Diamond-Blackfan anaemia 11, OMIM:614900 |
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