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| Paroxysmal central nervous system disorders v0.129 | PRRT2 | Rebecca Foulger Marked gene: PRRT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.129 | PRRT2 | Rebecca Foulger Gene: prrt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.129 | PRRT2 | Rebecca Foulger Phenotypes for gene: PRRT2 were changed from SEIZURES, BENIGN FAMILIAL INFANTILE, 2; dystonia and occasionally hemiplegic migraine and epilepsy; episodic kinesigenic dyskinesia; EPISODIC KINESIGENIC DYSKINESIA 1; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS to Seizures, benign familial infantile, 2, 605751; dystonia and occasionally hemiplegic migraine and epilepsy; Episodic kinesigenic dyskinesia 1, 128200; Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.128 | PRRT2 | Rebecca Foulger Mode of inheritance for gene: PRRT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.27 | PRRT2 | Rebecca Foulger Source NHS GMS was added to PRRT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.26 | PRRT2 | Rebecca Foulger commented on gene: PRRT2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.25 | PRRT2 | James Polke reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.24 | PRRT2 | Rebecca Foulger Source London North GLH was added to PRRT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.23 | PRRT2 | Rebecca Foulger reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.22 | PRRT2 | Tracy Lester reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066, Episodic kinesigenic dyskinesia 1, 128200, Seizures, benign familial infantile, 2, 605751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.21 | PRRT2 | Rebecca Foulger Source Wessex and West Midlands GLH was added to PRRT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.3 | PRRT2 | Ellen McDonagh Added phenotypes SEIZURES, BENIGN FAMILIAL INFANTILE, 2; episodic kinesigenic dyskinesia; EPISODIC KINESIGENIC DYSKINESIA 1; dystonia and occasionally hemiplegic migraine and epilepsy; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS for gene: PRRT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.2 | PRRT2 |
Ellen McDonagh gene: PRRT2 was added gene: PRRT2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRRT2 were set to 22744660; 22101681; 22120146; 22399141 Phenotypes for gene: PRRT2 were set to SEIZURES, BENIGN FAMILIAL INFANTILE, 2; episodic kinesigenic dyskinesia; EPISODIC KINESIGENIC DYSKINESIA 1; dystonia and occasionally hemiplegic migraine and epilepsy; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS |
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