Genetic epilepsy syndromes
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
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