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| Mendeliome v1.4137 | PCBP1 | Zornitza Stark Marked gene: PCBP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4137 | PCBP1 | Zornitza Stark Gene: pcbp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4137 | PCBP1 | Zornitza Stark Classified gene: PCBP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4137 | PCBP1 | Zornitza Stark Gene: pcbp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4107 | PCBP1 |
Sarah Milton gene: PCBP1 was added gene: PCBP1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PCBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PCBP1 were set to 41415500 Phenotypes for gene: PCBP1 were set to Neurodevelopmental disorder, MONDO:0700092, PCBP1-related Review for gene: PCBP1 was set to GREEN Added comment: Below information taken from pre print paper. PCBP1 encodes the poly(rC)-binding protein 1, an RNA‑binding protein involved in transcriptional and translational processes and splicing. PMID 41415500 reports 13 unrelated individuals with heterozygous de‑novo truncating or missense variants in PCBP1 presenting with a neurodevelopmental disorder characterized by intellectual disability, autism spectrum disorder, hypotonia, and variable additional features (seizures 3/13, microcephaly 3/13, ophthalmologic features 6/13). All variants absent from gnomAD v4 and LOF proposed mechanism of disease with a significant paucity of LOF variants in the gene in gnomAD. Functional assays in primary mouse hippocampal neurons transfected with patient variants showed mixed results. RNA‑sequencing from three of the patients showed altered splicing of other genes thought secondary to variants in PCBP1. Sources: Literature |
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