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Severe Paediatric Disorders v0.12 | PRRT2 | Louise Daugherty reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PRRT2 | Louise Daugherty Publications for gene PRRT2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PRRT2 | Louise Daugherty Mode of inheritance for gene PRRT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | PRRT2 | Louise Daugherty Added phenotypes Episodic kinesigenic dyskinesia 1, 128200; Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Seizures, benign familial infantile, 2, 605751 for gene: PRRT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PRRT2 | Louise Daugherty Added phenotypes Episodic kinesigenic dyskinesia 1, 128200; Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Seizures, benign familial infantile, 2, 605751 for gene: PRRT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PRRT2 | Louise Daugherty Added phenotypes Episodic kinesigenic dyskinesia 1, 128200; Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Seizures, benign familial infantile, 2, 605751 for gene: PRRT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | PRRT2 | Louise Daugherty Added phenotypes Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Seizures, benign familial infantile, 2, 605751; Episodic kinesigenic dyskinesia 1, 128200 for gene: PRRT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | PRRT2 | Louise Daugherty Source Next Generation Children Project was added to PRRT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | PRRT2 |
Louise Daugherty Source Expert Review Green was added to PRRT2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | PRRT2 |
Louise Daugherty gene: PRRT2 was added gene: PRRT2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PRRT2 was set to |