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| Mendeliome v2.0 | WDR75 |
Simon Sadedin gene: WDR75 was added gene: WDR75 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: WDR75 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR75 were set to 42099922 Phenotypes for gene: WDR75 were set to Syndromic disease, MONDO:0002254 Review for gene: WDR75 was set to RED Added comment: PMID 42099922 reports 1 individual from 1 family with compound heterozygous WDR75 variants presenting with childhood‑onset hypogammaglobulinemia and autism spectrum disorder. Functional studies in patient‑derived lymphoblastoid cells and CRISPR‑edited U2OS cells show a pre‑rRNA processing defect, supporting a partial loss‑of‑function mechanism. Sources: Literature |
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