Activity
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9 actions
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| Fetal anomalies v6.129 | RNU5B-1 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: RNU5B-1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.121 | RNU5B-1 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: RNU5B-1. Tag Q3_25_NHS_review was removed from gene: RNU5B-1. |
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| Fetal anomalies v6.120 | RNU5B-1 | Achchuthan Shanmugasundram reviewed gene: RNU5B-1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.119 | RNU5B-1 |
Arina Puzriakova Source Expert Review Green was added to RNU5B-1. Source NHS GMS was added to RNU5B-1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.73 | RNU5B-1 |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: RNU5B-1. Tag Q3_25_NHS_review tag was added to gene: RNU5B-1. |
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| Fetal anomalies v6.29 | RNU5B-1 | Arina Puzriakova reviewed gene: RNU5B-1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | RNU5B-1 | Natalie Chandler commented on gene: RNU5B-1: 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 | RNU5B-1 | Natalie Chandler reviewed gene: RNU5B-1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40379786; Phenotypes: Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | RNU5B-1 |
Arina Puzriakova gene: RNU5B-1 was added gene: RNU5B-1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: RNU5B-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RNU5B-1 were set to 40379786 Phenotypes for gene: RNU5B-1 were set to Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302 |
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