| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v2.268 | PTPRU | Sarah Milton Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.268 | PTPRU |
Sarah Milton gene: PTPRU was added gene: PTPRU was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PTPRU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPRU were set to 37056996 Phenotypes for gene: PTPRU were set to Neurodevelopmental disorder, MONDO:0700092, PTPRU-related Review for gene: PTPRU was set to RED Added comment: PMID 37056996 reports candidate neurodevelopmental genes and notes 3 individuals from 3 families with de novo heterozygous missense variants in PTPRU. The individuals presented with intellectual disability. No variant‑specific functional assays were performed and all variants are absent from or extremely rare in population databases. Further research is required to establish this gene disease association. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||