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| Mendeliome v2.461 | USP15 | Zornitza Stark Marked gene: USP15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.461 | USP15 | Zornitza Stark Gene: usp15 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.461 | USP15 |
Zornitza Stark gene: USP15 was added gene: USP15 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: USP15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: USP15 were set to 42526765; 28344757 Phenotypes for gene: USP15 were set to Neurodevelopmental disorder, MONDO:0700092, USP15-related Review for gene: USP15 was set to RED Added comment: PMID 42526765 reports a single individual with a de novo start‑codon loss‑of‑function USP15 variant and autism spectrum disorder; PMID 28344757 reports another individual with a de novo loss‑of‑function USP15 variant and autism spectrum disorder but variant details not provided. The PMID 42526765 study demonstrated progenitor‑centric transcriptional dysregulation and neuronal maturation defects in isogenic hiPSC‑derived cortical organoids harbouring the heterozygous variant. Sources: Literature |
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