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| Mendeliome v0.5918 | RALGAPB | Seb Lunke Marked gene: RALGAPB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5918 | RALGAPB | Seb Lunke Gene: ralgapb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5918 | RALGAPB | Seb Lunke Classified gene: RALGAPB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5918 | RALGAPB | Seb Lunke Gene: ralgapb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5917 | RALGAPB |
Elena Savva gene: RALGAPB was added gene: RALGAPB was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RALGAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RALGAPB were set to PMID: 32853829 Phenotypes for gene: RALGAPB were set to Neurodevelopmental disorders, autism Review for gene: RALGAPB was set to GREEN Added comment: PMID: 32853829 - 2 patients with de novo missense variants, 1 patient with a de novo PTC with autism spectrum disorder from a large cohort. Reviews previous publications and identifies 10 de novo variants (5 PTCs, 5 missense) in patients with ASD (7/10), epilepsy (2/10) and developmental delay (1/10). Functional studies of patient cells show reduced mRNA expression (PTC). Sources: Literature |
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