Activity
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9 actions
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| Fetal anomalies v6.121 | ODC1 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: ODC1. Tag Q3_25_NHS_review was removed from gene: ODC1. |
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| Fetal anomalies v6.120 | ODC1 | Achchuthan Shanmugasundram reviewed gene: ODC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.119 | ODC1 |
Arina Puzriakova Source Expert Review Green was added to ODC1. Source NHS GMS was added to ODC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.62 | ODC1 | Arina Puzriakova Phenotypes for gene: ODC1 were changed from Bachmann-Bupp syndrome to Bachmann-Bupp syndrome, OMIM:619075 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.61 | ODC1 |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: ODC1. Tag Q3_25_NHS_review tag was added to gene: ODC1. |
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| Fetal anomalies v6.29 | ODC1 | Arina Puzriakova reviewed gene: ODC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | ODC1 | Anna de Burca commented on gene: ODC1: 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 | ODC1 | Anna de Burca reviewed gene: ODC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40188065; Phenotypes: Bachmann-Bupp syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | ODC1 |
Arina Puzriakova gene: ODC1 was added gene: ODC1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ODC1 were set to 40188065 Phenotypes for gene: ODC1 were set to Bachmann-Bupp syndrome |
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