| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ataxia - paediatric v0.191 | PRRT2 | Zornitza Stark Marked gene: PRRT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.191 | PRRT2 | Zornitza Stark Gene: prrt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.150 | PRRT2 | Bryony Thompson Classified gene: PRRT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.150 | PRRT2 | Bryony Thompson Gene: prrt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.149 | PRRT2 |
Bryony Thompson gene: PRRT2 was added gene: PRRT2 was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PRRT2 were set to 26598494; 31193310; 30501978; 30713971 Phenotypes for gene: PRRT2 were set to Episodic kinesigenic dyskinesia 1 MIM#128200; Convulsions, familial infantile, with paroxysmal choreoathetosis MIM#602066; Seizures, benign familial infantile, 2 MIM#605751 Review for gene: PRRT2 was set to GREEN Added comment: Ataxia can be a prominent feature of the condition, particularly in biallelic cases. Onset of ataxia is variable, from paediatric to adult. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||