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Fetal anomalies

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 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Soo-Mi Park (Cambridge University Hospital NHS Foundation Trust)

Green List (high evidence)

Green gene on R27. R29, R59, R66. Heterozygous de novo missense variants (mainly recurrent) lead to Developmental and epileptic encephalopathy-64 (DEE64) characterised by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include progressive microcephaly (OFC normal at birth) hypotonia, hemiparesis/hemiplegic episodes, dysautonomia, abnormal movements, and nonspecific dysmorphic features. MRI brain features include delayed myelination or enlarged ventricles, thin corpus callosum, cerebellar hypoplasia, acute diffusion anomalies and subsequent atrophy and infarction anomalies, hemispheric swelling (diffusion negative). PMID:37165955 also describes 13 individuals from 9 independent families with homozygous (8 families) or compound heterozygous (1 family), potential loss-of-function variants in RHOBTB2 with GDD, ID, seizures/febrile seizures, unsteady gait, movement disorder, and microcephaly. No prenatal phenotype reported but brain CC anomalies may be detected.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 64, OMIM:618004

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 64, OMIM:618004
OMIM
607352
Clinvar variants
Variants in RHOBTB2
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Developmental and epileptic encephalopathy 64, OMIM:618004 for gene: RHOBTB2

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: RHOBTB2 was added gene: RHOBTB2 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: RHOBTB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal