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Paroxysmal central nervous system disorders v4.6 PRRT2 Ida Ertmanska changed review comment from: Comment on mode of inheritance: Heterozygous PRRT2 variants are a well known cause of 'Convulsions, familial infantile, with paroxysmal choreoathetosis' - most commonly the c.649dupC variant. There are also several individuals reported in literature with biallelic PRRT2 variants and a more severe neurologic presentation, including childhood-onset epilepsy, dyskinesia, and episodic ataxia. Additionally, cerebellar atrophy was confirmed on MRI in 2 cases. Hence, the MOI should be changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.; to: Comment on mode of inheritance: Heterozygous PRRT2 variants are a well known cause of 'Convulsions, familial infantile, with paroxysmal choreoathetosis' - most commonly the c.649dupC variant. There are also several individuals reported in literature with biallelic PRRT2 variants and a more severe neurologic presentation, including childhood-onset epilepsy, dyskinesia, and episodic ataxia. Hence, the MOI should be changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.
Paroxysmal central nervous system disorders v4.6 PRRT2 Ida Ertmanska Phenotypes for gene: PRRT2 were changed from 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 to PRRT2-associated paroxysmal movement disorder, MONDO:0100556; 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 v4.5 PRRT2 Ida Ertmanska Publications for gene: PRRT2 were set to 22744660; 22101681; 22120146; 22399141
Paroxysmal central nervous system disorders v4.4 PRRT2 Ida Ertmanska commented on gene: PRRT2: Comment on mode of inheritance: Heterozygous PRRT2 variants are a well known cause of 'Convulsions, familial infantile, with paroxysmal choreoathetosis' - most commonly the c.649dupC variant. There are also several individuals reported in literature with biallelic PRRT2 variants and a more severe neurologic presentation, including childhood-onset epilepsy, dyskinesia, and episodic ataxia. Additionally, cerebellar atrophy was confirmed on MRI in 2 cases. Hence, the MOI should be changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.
Paroxysmal central nervous system disorders v4.4 PRRT2 Ida Ertmanska Tag Q3_26_MOI tag was added to gene: PRRT2.
Paroxysmal central nervous system disorders v4.4 PRRT2 Ida Ertmanska reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23126439, 25595153, 31193310, 36247910, 38316952; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066, PRRT2-associated paroxysmal movement disorder, MONDO:0100556; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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