Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Paroxysmal Dyskinesia v0.82 | RHOBTB2 | Zornitza Stark Marked gene: RHOBTB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal Dyskinesia v0.82 | RHOBTB2 | Zornitza Stark Gene: rhobtb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal Dyskinesia v0.82 | RHOBTB2 | Zornitza Stark Phenotypes for gene: RHOBTB2 were changed from Paroxysmal movement disorder to Epileptic encephalopathy, early infantile, 64, MIM# 618004; Paroxysmal movement disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal Dyskinesia v0.81 | RHOBTB2 | Zornitza Stark Classified gene: RHOBTB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal Dyskinesia v0.81 | RHOBTB2 | Zornitza Stark Gene: rhobtb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal Dyskinesia v0.80 | RHOBTB2 | Zornitza Stark reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 64, MIM# 618004; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal Dyskinesia v0.80 | RHOBTB2 |
Eunice Chan gene: RHOBTB2 was added gene: RHOBTB2 was added to Paroxysmal Dyskinesia. 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 Paroxysmal movement disorder Added comment: At least 5/10 patients described had paroxysmal, or chorea-like movements 8/10 have a movement disorder Sources: Other |