Activity
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| Fetal anomalies v6.29 | UNC50 | Arina Puzriakova reviewed gene: UNC50: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | UNC50 | Sarah Graham commented on gene: UNC50: 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 | UNC50 | Sarah Graham reviewed gene: UNC50: Rating: AMBER; Mode of pathogenicity: ; Publications: 33820833, 40219868, 29016857; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | UNC50 |
Arina Puzriakova gene: UNC50 was added gene: UNC50 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC50 were set to 29016857; 40219868; 33820833 Phenotypes for gene: UNC50 were set to Arthrogryposis multiplex congenita |
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