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Early onset or syndromic epilepsy v2.373 RORB Arina Puzriakova Phenotypes for gene: RORB were changed from generalized epilepsies with predominant absence seizures to {Epilepsy, idiopathic generalized, susceptibility to, 15}, OMIM:618357
Early onset or syndromic epilepsy v1.191 RORB Rebecca Foulger Source Wessex and West Midlands GLH was added to RORB.
Early onset or syndromic epilepsy v1.190 RORB Rebecca Foulger Source NHS GMS was added to RORB.
Early onset or syndromic epilepsy v1.189 RORB Rebecca Foulger reviewed gene: RORB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 RORB Tracy Lester reviewed gene: RORB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27352968; Phenotypes: epilepsy absence seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.1277 RORB Sarah Leigh Marked gene: RORB as ready
Early onset or syndromic epilepsy v0.1277 RORB Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. Three variants reported in three unrelated cases of generalized epilepsies with predominant absence seizures. The variant c.196C>T/p.(Arg66*) segregates with the condition in four affected members of a three generation family. Variants c.218T>C/p.(Leu73Pro), c.1249_1251delACG/p.(Thr417del) appeared to be the result of de novo events in sporadic cases. Furthermore, two de novo deletions were identified in patients with behavioral and cognitive impairment and epilepsy: a 52-kb microdeletion involving exons 5-10 of RORB and a larger 9q21-microdeletion (PMID: 27352968).
Early onset or syndromic epilepsy v0.1277 RORB Sarah Leigh Gene: rorb has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1277 RORB Sarah Leigh Classified gene: RORB as Green List (high evidence)
Early onset or syndromic epilepsy v0.1277 RORB Sarah Leigh Gene: rorb has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1276 RORB Sarah Leigh Mode of inheritance for gene: RORB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.1272 RORB Sarah Leigh Phenotypes for gene: RORB were changed from to generalized epilepsies with predominant absence seizures
Early onset or syndromic epilepsy v0.1271 RORB Sarah Leigh Publications for gene: RORB were set to
Early onset or syndromic epilepsy RORB Zornitza Stark reviewed gene: RORB
Early onset or syndromic epilepsy RORB Sarah Leigh Added gene to panel