| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Paroxysmal Dyskinesia v0.125 | KIAA1161 |
Shekeeb Mohammad commented on gene: KIAA1161: Dyskinesia can be provoked by quick movement (Kinesigenic) or by Hyperventilation Patients can present with acute hemiplegia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.125 | KIAA1161 | Shekeeb Mohammad edited their review of gene: KIAA1161: Changed phenotypes: paroxysmal kinesigenic dyskinesia, brain calcification, episodic hemiparesis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.118 | KIAA1161 | Zornitza Stark Marked gene: KIAA1161 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.118 | KIAA1161 | Zornitza Stark Gene: kiaa1161 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.118 | KIAA1161 | Zornitza Stark Phenotypes for gene: KIAA1161 were changed from paroxysmal dyskinesia; brain calcification; episodic hemiparesis to Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM #618317; paroxysmal dyskinesia; brain calcification; episodic hemiparesis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.117 | KIAA1161 | Zornitza Stark Classified gene: KIAA1161 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.117 | KIAA1161 | Zornitza Stark Gene: kiaa1161 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.112 | KIAA1161 |
Shekeeb Mohammad gene: KIAA1161 was added gene: KIAA1161 was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1161 were set to 34346093; 34783389; 32303062 Phenotypes for gene: KIAA1161 were set to paroxysmal dyskinesia; brain calcification; episodic hemiparesis Penetrance for gene: KIAA1161 were set to Complete Review for gene: KIAA1161 was set to GREEN gene: KIAA1161 was marked as current diagnostic Added comment: Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||