Paroxysmal central nervous system disorders
Gene: RHOBTB2EnsemblGeneIds (GRCh38): ENSG00000008853
EnsemblGeneIds (GRCh37): ENSG00000008853
OMIM: 607352, Gene2Phenotype
RHOBTB2 is in 4 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 6 Dec 2024, 12:52 p.m. | Last Modified: 6 Dec 2024, 12:52 p.m.
Panel Version: 3.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sarah Leigh (Genomics England Curator)
RHOBTB2 variant have been associated with Developmental and epileptic encephalopathy 64 (OMIM:618004) and as strong Gen2Phen gene for the same condition. PMID: 29276004 reports five RHOBTB2 variants in unrelated cases of OMIM:618004. The authors also present supportive functional studies.Created: 15 Aug 2023, 3 p.m. | Last Modified: 15 Aug 2023, 3 p.m.
Panel Version: 3.8
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 15 Aug 2023, 2:46 p.m. | Last Modified: 15 Aug 2023, 2:46 p.m.
Panel Version: 3.7
Publications
Dmitrijs Rots (Children's Clinical University Hospital)
should be green based on previous reviewCreated: 24 Jul 2023, 1:14 p.m. | Last Modified: 24 Jul 2023, 1:14 p.m.
Panel Version: 3.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Zornitza Stark (Australian Genomics)
Eleven affected patients were identified. All had heterozygous missense variants involving exon 9 of RHOBTB2, confirmed as de novo in 9 cases. All had a complex motor phenotype, including at least 2 different kinds of movement disorder, e.g., ataxia and dystonia. Many patients demonstrated several features fulfilling the criteria for AHC: 10 patients had a movement disorder including paroxysmal elements, and 8 experienced hemiplegic episodes. In contrast to classic AHC, commonly caused by mutations in ATP1A3, these events were reported later only in RHOBTB2 mutation-positive patients from 20 months of age. All had ID, and many had seizures, so this represents an expansion of the phenotype rather than a distinct disorder.
Sources: LiteratureCreated: 13 Sep 2021, 8:18 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy 64 618004; Alternating hemiplegia
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Developmental and epileptic encephalopathy 64, OMIM:618004
- developmental and epileptic encephalopathy, 64, MONDO:0033373
- OMIM
- 607352
- Clinvar variants
- Variants in RHOBTB2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_promote_green was removed from gene: RHOBTB2.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to RHOBTB2. Source Expert Review Green was added to RHOBTB2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_MOI was removed from gene: RHOBTB2.
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_23_promote_green tag was added to gene: RHOBTB2. Tag Q3_23_MOI tag was added to gene: RHOBTB2.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: RHOBTB2 were changed from Developmental and epileptic encephalopathy 64 618004; Alternating hemiplegia to Developmental and epileptic encephalopathy 64, OMIM:618004; developmental and epileptic encephalopathy, 64, MONDO:0033373
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: rhobtb2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: RHOBTB2 was added gene: RHOBTB2 was added to Paroxysmal central nervous system disorders. Sources: Literature Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RHOBTB2 were set to 33504645 Phenotypes for gene: RHOBTB2 were set to Developmental and epileptic encephalopathy 64 618004; Alternating hemiplegia Review for gene: RHOBTB2 was set to GREEN