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Genetic epilepsy syndromes

Gene: RORB

Green List (high evidence)

RORB (RAR related orphan receptor B)
EnsemblGeneIds (GRCh38): ENSG00000198963
EnsemblGeneIds (GRCh37): ENSG00000198963
OMIM: 601972, Gene2Phenotype
RORB is in 2 panels

4 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
epilepsy absence seizures

Publications

Sarah Leigh (Genomics England Curator)

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.

Zornitza Stark (Australian Genomics)

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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • generalized epilepsies with predominant absence seizures
OMIM
601972
Clinvar variants
Variants in RORB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to RORB.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to RORB.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Multiple individuals with SNVs

30 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rorb has been classified as Green List (High Evidence).

30 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rorb has been classified as Green List (High Evidence).

30 Nov 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: RORB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

29 Nov 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RORB were changed from to generalized epilepsies with predominant absence seizures

29 Nov 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RORB were set to

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to RORB. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

RORB was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

RORB was created by Sarah Leigh