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| Paroxysmal central nervous system disorders v3.8 | RHOBTB2 | Sarah Leigh edited their review of gene: RHOBTB2: Added comment: 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.; Changed rating: GREEN; Changed publications to: 29276004 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v3.8 | RHOBTB2 |
Sarah Leigh Tag Q3_23_promote_green tag was added to gene: RHOBTB2. Tag Q3_23_MOI tag was added to gene: RHOBTB2. |
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| Paroxysmal central nervous system disorders v3.8 | RHOBTB2 | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v3.7 | RHOBTB2 | Sarah Leigh Classified gene: RHOBTB2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v3.7 | RHOBTB2 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v3.7 | RHOBTB2 | Sarah Leigh Gene: rhobtb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v3.1 | RHOBTB2 | Dmitrijs Rots reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v1.17 | RHOBTB2 |
Zornitza Stark 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 Added comment: 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: Literature |
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