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| Mendeliome v1.4681 | WWP1 |
Sarah Milton gene: WWP1 was added gene: WWP1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: WWP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WWP1 were set to 41786693; 32699206 Phenotypes for gene: WWP1 were set to Neurodevelopmental disorder, MONDO:0700092, WWP1-related Review for gene: WWP1 was set to RED Added comment: WWP1 encodes a E3 ubiquitin ligase involved in protein trafficking. PMID: 32699206 describes 10 individuals with autism found to have missense or splice variants in WWP1 with an autism phenotype. Variants were all found to be inherited apart from 2 in which inheritance was unknown. Phenotypes of parents were not included in the publication. Authors propose variants in this gene are more common in neurodevelopmental cohorts than control populations. All variants apart from 1 detected in affected individuals were present in gnomad v4, with allele frequencies ranging from 4 heterozygotes to 4000 heterozygotes. PMID: 41786693 describes another affected individual with development epileptic encephalopathy and regression with a de novo missense in WWP1. This variant was present in 4 heterozygotes in gnomad v4. Extensive functional studies were performed in this paper in mice and cell lines showing gain of function variants in WWP1 in mice embryos resulted in abnormal neuronal migration and increased neuronal apoptosis. Further studies are needed to demonstrate a Mendelian gene disease association. Sources: Literature |
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