Early onset or syndromic epilepsy

Gene: RORB

I don't know

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

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
epilepsy absence seizures

Publications

• 27352968

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.

Green List (high evidence)

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

• 27352968

Variants in this GENE are reported as part of current diagnostic practice