Activity
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7 actions
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| Fetal anomalies v8.26 | CCP110 | Ida Ertmanska commented on gene: CCP110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.25 | CCP110 | Sunayna Best reviewed gene: CCP110: Rating: AMBER; Mode of pathogenicity: ; Publications: 26965371, 38857829; Phenotypes: ciliopathy, MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.23 | CCP110 |
Ida Ertmanska Source NHS GMS was added to CCP110. Added phenotypes ciliopathy, MONDO:0005308 for gene: CCP110 Publications for gene: CCP110 were updated from to 26965371; 38857829 |
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| Fetal anomalies v6.152 | CCP110 | Arina Puzriakova Added phenotypes ciliopathy for gene: CCP110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.148 | CCP110 | Arina Puzriakova commented on gene: CCP110: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.147 | CCP110 | Arina Puzriakova reviewed gene: CCP110: Rating: AMBER; Mode of pathogenicity: ; Publications: 38857829; Phenotypes: ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.145 | CCP110 |
Arina Puzriakova gene: CCP110 was added gene: CCP110 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: CCP110 was set to BIALLELIC, autosomal or pseudoautosomal |
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