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  3. RHOBTB2
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DDG2P

Gene: RHOBTB2

Green List (high evidence)
RHOBTB2 (Rho related BTB domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000008853
EnsemblGeneIds (GRCh37): ENSG00000008853
OMIM: 607352, Gene2Phenotype
RHOBTB2 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for RHOBTB2-related developmental and epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMID:29276004). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02589.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease Developmental and Epileptic Encephalopathy is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:29276004).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
OMIM:618004.0; MONDO:0033373; Developmental and Epileptic Encephalopathy; RHOBTB2-related developmental and epileptic encephalopathy

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P in March 2019: Developmental and Epileptic Encephalopathy. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
Created: 22 Apr 2019, 7:34 p.m.
Created: 22 Apr 2019, 7:34 p.m.

Panel version: 1.38

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Developmental and Epileptic Encephalopathy
OMIM
607352
Clinvar variants
Variants in RHOBTB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: RHOBTB2 was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to RHOBTB2. Mode of pathogenicity for gene RHOBTB2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

22 Apr 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: RHOBTB2 was added gene: RHOBTB2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RHOBTB2 were set to 29276004 Phenotypes for gene: RHOBTB2 were set to Developmental and Epileptic Encephalopathy Mode of pathogenicity for gene: RHOBTB2 was set to Other - please provide details in the comments