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| Intellectual disability v10.18 | SF3B1 |
Karen Stals gene: SF3B1 was added gene: SF3B1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: SF3B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SF3B1 were set to PMID: 41577671 Phenotypes for gene: SF3B1 were set to Neurodevelopmental disorder; language impairment; developmental delay; seizures; dysmorphism; congenital anomalies Review for gene: SF3B1 was set to GREEN gene: SF3B1 was marked as current diagnostic Added comment: PMID: 41577671 report 26 individuals with a neurodevelopmental disorder and a SF3B1 heterozygous variant - loss of function (n = 9) and missense variants (n = 17) (mostly de novo), authors propose a more severe phenotype associated with missense variants Sources: Literature |
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