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| Genetic Epilepsy v0.2094 | RALGAPB | Lisa Norbart reviewed gene: RALGAPB: Rating: AMBER; Mode of pathogenicity: None; Publications: 32853829; Phenotypes: Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.993 | RALGAPB | Seb Lunke Marked gene: RALGAPB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.993 | RALGAPB | Seb Lunke Gene: ralgapb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.993 | RALGAPB | Seb Lunke Classified gene: RALGAPB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.993 | RALGAPB | Seb Lunke Gene: ralgapb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.992 | RALGAPB |
Elena Savva gene: RALGAPB was added gene: RALGAPB was added to Genetic Epilepsy. 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 AMBER 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, epilepsy only present in 2/10. Sources: Literature |
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