Activity
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7 actions
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| Fetal anomalies v8.26 | EXOSC10 | Ida Ertmanska commented on gene: EXOSC10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.25 | EXOSC10 | Sarah Graham reviewed gene: EXOSC10: Rating: RED; Mode of pathogenicity: ; Publications: 41132091; Phenotypes: Microcephaly, MONDO:0001149; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.23 | EXOSC10 |
Ida Ertmanska gene: EXOSC10 was added gene: EXOSC10 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: EXOSC10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EXOSC10 were set to 41132091 Phenotypes for gene: EXOSC10 were set to Microcephaly, MONDO:0001149 |
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| Fetal anomalies v6.152 | EXOSC1 | Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia, type 1F, OMIM:619304 for gene: EXOSC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.148 | EXOSC1 | Arina Puzriakova commented on gene: EXOSC1: 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 | EXOSC1 | Arina Puzriakova reviewed gene: EXOSC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 37024942, 33463720; Phenotypes: Pontocerebellar hypoplasia, type 1F, OMIM:619304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.146 | EXOSC1 |
Arina Puzriakova gene: EXOSC1 was added gene: EXOSC1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: EXOSC1 was set to BIALLELIC, autosomal or pseudoautosomal |
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