Genetic Epilepsy
Gene: RORB

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

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Classified as MODERATE by ClinGen Epilepsy GCEP on 21/09/2022 - https://search.clinicalgenome.org/CCID:006020

"Most patients (85%) have photosensitive epilepsy and some (35%) have eyelid myoclonia. Cognition is highly variable: 35% of patients have neurotypical development, 20% having learning difficulties, 20% have mild intellectual disability, and 25% have moderate-profound intellectual disability.
The mechanism for disease is likely haploinsufficiency (PMID: 27352968)."
Created: 22 Apr 2024, 1:26 a.m. | Last Modified: 22 Apr 2024, 1:26 a.m.

Panel Version: 0.2599

Phenotypes
epilepsy MONDO:0005027

Publications

27352968

Created: 22 Apr 2024, 1:26 a.m.
Last Modified: 22 Apr 2024, 1:26 a.m.
Panel version: 0.2599

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 7 unrelated individuals reported, with PTCs, missense and exonic deletions. Inherited and de novo cases, however 1 large family had incomplete penetrance and phenocopies. Phenotype is variable, but usually involved photosensitivity. ASD, ID and regression also noted in some cases. Functional studies of variants have not been performed, however variants are predicted to result in a loss of function.
Created: 24 Nov 2020, 10:03 a.m. | Last Modified: 24 Nov 2020, 10:03 a.m.

Panel Version: 0.5409

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Epilepsy, idiopathic generalized, susceptibility to, 15} (MIM#618357), AD; Genetic generalized epilepsy (GGE); Photosensitive generalized and occipital epilepsy

Publications

Created: 24 Nov 2020, 10:03 a.m.
Last Modified: 24 Nov 2020, 10:03 a.m.
Panel version: Imported from Mendeliome panel version 0.5409

Kristin Rigbye (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 7 unrelated individuals reported, with PTCs, missense and exonic deletions. Inherited and de novo cases, however 1 large family had incomplete penetrance and phenocopies. Phenotype is variable, but usually involved photosensitivity. ASD, ID and regression also noted in some cases. Functional studies of variants have not been performed, however variants are predicted to result in a loss of function.
Created: 23 Nov 2020, 1:20 a.m. | Last Modified: 23 Nov 2020, 1:20 a.m.

Panel Version: 0.906

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Epilepsy, idiopathic generalized, susceptibility to, 15} (MIM#618357), AD; Genetic generalized epilepsy (GGE); Photosensitive generalized and occipital epilepsy

Publications

Created: 23 Nov 2020, 1:20 a.m.
Last Modified: 23 Nov 2020, 1:20 a.m.
Panel version: 0.906

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship
Victorian Clinical Genetics Services

Phenotypes

{Epilepsy, idiopathic generalized, susceptibility to, 15} (MIM#618357), AD
Genetic generalized epilepsy (GGE)
Photosensitive generalized and occipital epilepsy

OMIM

601972

Clinvar variants

Variants in RORB

Penetrance

None

Publications

Panels with this gene