Early onset or syndromic epilepsy
Gene: RORB
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
epilepsy absence seizures
Publications
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).Created: 30 Nov 2018, 4:19 p.m.
Multiple individuals with SNVs/CNVs affecting this gene and neurodevelopmental phenotypes including seizures reported in this paper (27352968).Created: 20 Aug 2018, 12:40 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: RORB were changed from generalized epilepsies with predominant absence seizures to {Epilepsy, idiopathic generalized, susceptibility to, 15}, OMIM:618357
Source Wessex and West Midlands GLH was added to RORB.
Source NHS GMS was added to RORB.
Zornitza Stark: Multiple individuals with SNVs
Gene: rorb has been classified as Green List (High Evidence).
Gene: rorb has been classified as Green List (High Evidence).
Mode of inheritance for gene: RORB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RORB were changed from to generalized epilepsies with predominant absence seizures
Publications for gene: RORB were set to
Expert Review Amber was added to RORB. Panel: Genetic Epilepsy Syndromes
RORB was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
RORB was created by Sarah Leigh