| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia - complex v0.144 | RHOBTB2 | Zornitza Stark Marked gene: RHOBTB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.144 | RHOBTB2 | Zornitza Stark Gene: rhobtb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.144 | RHOBTB2 | Zornitza Stark Phenotypes for gene: RHOBTB2 were changed from Dystonia, hypertonia, movement disorder; truncal hypotonia; hemiparesis; developmental and epileptic encephalopathy to Epileptic encephalopathy, early infantile, 64, MIM# 618004; Dystonia, hypertonia, movement disorder; truncal hypotonia; hemiparesis; developmental and epileptic encephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.143 | RHOBTB2 | Zornitza Stark Classified gene: RHOBTB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.143 | RHOBTB2 | Zornitza Stark Gene: rhobtb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.142 | RHOBTB2 |
Eunice Chan gene: RHOBTB2 was added gene: RHOBTB2 was added to Dystonia - complex. Sources: Other Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RHOBTB2 were set to PMID: 29276004 Phenotypes for gene: RHOBTB2 were set to Dystonia, hypertonia, movement disorder; truncal hypotonia; hemiparesis; developmental and epileptic encephalopathy Added comment: 8/10 patients described had dystonic, paroxysmal, or chorea-like movements Sources: Other |
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