Genetic Epilepsy

Gene: RHOBTB2

Green List (high evidence)

Only missense have been reported

GoF mechanism, where mutant RHOBTB2 proteins are more resistant to proteasome degradation

Created: 5 Jun 2020, 4:44 a.m. | Last Modified: 5 Jun 2020, 4:44 a.m.

Panel Version: 0.3032

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Epileptic encephalopathy, early infantile, 64, 618004

Publications

• PMID:29276004
• 29768694

Mode of pathogenicity
Other

Green List (high evidence)

PMID 37165955: 16 individuals with de novo heterozygous missense variants in the BTB domain region and a severe DEE as previously reported. In addition, 6 individuals with de novo missense variants in the GTPase domain and a more variable neurodevelopmental phenotypes with or without epilepsy. In contrast to variants in the BTB domain region, variants in the GTPase domain do not impair proteasomal degradation of RHOBTB2 in vitro, indicating different functional consequences.
In addition, 9 families with observed bi-allelic splice-site and truncating variants with variable neurodevelopmental phenotypes, indicating that complete loss of RHOBTB2 is pathogenic as well.

Created: 2 Jun 2023, 1:04 a.m. | Last Modified: 2 Jun 2023, 1:04 a.m.

Panel Version: 0.1862

13 individuals from unrelated families reported in the literature in 2018 with de novo variants in this gene and ID/EE.

Created: 9 Dec 2019, 7:17 p.m. | Last Modified: 9 Dec 2019, 7:17 p.m.

Panel Version: 0.18

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 64, MIM#618004

Publications

• 29768694
• 29276004
• 37165955