Activity
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| Fetal anomalies v6.29 | NUP214 | Arina Puzriakova reviewed gene: NUP214: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | NUP214 | Stephanie Allen commented on gene: NUP214: 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 | NUP214 | Stephanie Allen reviewed gene: NUP214: Rating: AMBER; Mode of pathogenicity: ; Publications: 31178128, 39650934, 30758658; Phenotypes: Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | NUP214 |
Arina Puzriakova Added phenotypes Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426 for gene: NUP214 Publications for gene: NUP214 were updated from 31178128; 38179855; 30758658; 3965093 to 31178128; 3965093; 38179855; 39650934; 30758658 |
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| Fetal anomalies v5.16 | NUP214 | Achchuthan Shanmugasundram commented on gene: NUP214 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | NUP214 | Esther Kinning reviewed gene: NUP214: Rating: AMBER; Mode of pathogenicity: ; Publications: 31178128, 38179855, 30758658, 3965093; Phenotypes: Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM#618426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | NUP214 |
Achchuthan Shanmugasundram gene: NUP214 was added gene: NUP214 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP214 were set to 31178128; 38179855; 30758658; 3965093 Phenotypes for gene: NUP214 were set to Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426 |
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