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| Mendeliome v1.4893 | RPS4X | Chirag Patel Marked gene: RPS4X as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4893 | RPS4X | Chirag Patel Gene: rps4x has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4893 | RPS4X | Chirag Patel Classified gene: RPS4X as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4893 | RPS4X | Chirag Patel Gene: rps4x has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4892 | RPS4X |
Chirag Patel gene: RPS4X was added gene: RPS4X was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RPS4X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: RPS4X were set to 42031741 Phenotypes for gene: RPS4X were set to Neurodevelopmental disorder, MONDO:0700092, RPS4X-related Review for gene: RPS4X was set to GREEN Added comment: PMID 42031741 reports 7 affected males from 6 unrelated families with neurodevelopmental disorder (developmental delay, developmental language disorder, intellectual disability, ASD, ADHD). There were 5 different rare variants identified (4 x missense, 1 frameshift variant), and all variants were all maternally inherited. Most were predicted to be deleterious. Patient fibroblasts carrying the p.Arg221Gln variant showed ~30 % reduced RPS4X protein. Zebrafish rps4x morpholino knock‑down caused brain defects that were rescued by wild‑type mRNA but not by mutant mRNA. However, their ability to assign pathogenicity to the majority of variants was limited. Sources: Literature |
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