| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early onset or syndromic epilepsy v2.523 | RALGAPB | Arina Puzriakova Classified gene: RALGAPB as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.523 | RALGAPB | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Rating Red as this currently represents a candidate gene and only a single individual has been reported with a relevant phenotype. Primary phenotype associated with this gene has been ASD which is not within the scope of this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.523 | RALGAPB | Arina Puzriakova Gene: ralgapb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.251 | RALGAPB |
Zornitza Stark gene: RALGAPB was added gene: RALGAPB was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: RALGAPB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RALGAPB were set to 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 and ID in 1/10. Variants in this gene cause a neurodevelopmental disorder, but autism seems to be the most prominent feature. Sources: Literature |
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