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| Mendeliome v2.0 | USP24 |
Simon Sadedin gene: USP24 was added gene: USP24 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: USP24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: USP24 were set to 42123666; 37314652 Phenotypes for gene: USP24 were set to Neurodevelopmental disorder, MONDO:0700092; Syndromic disease, MONDO:0002254 Penetrance for gene: USP24 were set to Complete Review for gene: USP24 was set to RED Added comment: PMID 37314652 reports an individual from a single family with a de novo heterozygous missense USP24 variant (c.2282A>G, p.His761Arg) presenting with high GGT cholestasis. PMID 42123666 reports an individual from a single family with a de novo heterozygous missense USP24 variant (c.3155G>T, p.Ser1052Ile) presenting with a neurodevelopmental disorder that includes autism spectrum disorder, borderline intellectual functioning, coordination disorder, epilepsy and macrocephaly. Sources: Literature |
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