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| Ataxia - adult onset v0.21 | PRRT2 | Bryony Thompson reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30501978, 30713971, 27423591, 25595153; Phenotypes: Episodic kinesigenic dyskinesia 1 MIM#128200, Convulsions, familial infantile, with paroxysmal choreoathetosis MIM#602066, Seizures, benign familial infantile, 2 MIM#605751; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.0 | PRRT2 |
Bryony Thompson gene: PRRT2 was added gene: PRRT2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRRT2 were set to 26598494; 31193310; 30501978; 30713971 Phenotypes for gene: PRRT2 were set to Familial infantile convulsions with paroxysmal dyskinesia 1, 602066; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; episodic kinesigenic dyskinesia; dystonia and occasionally hemiplegic migraine and epilepsy; episodic kinesigenic dyskinesia, 128200; EPISODIC KINESIGENIC DYSKINESIA 1; SEIZURES, BENIGN FAMILIAL INFANTILE, 2 |
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