Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Early onset or syndromic epilepsy v9.44 PRRT2 Ida Ertmanska Phenotypes for gene: PRRT2 were changed from Convulsions, familial infantile, with paroxysmal choreoathetosis; Episodic kinesigenic dyskinesia 1; Seizures, benign familial infantile, 2; BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME to PRRT2-associated paroxysmal movement disorder, MONDO:0100556; Convulsions, familial infantile, with paroxysmal choreoathetosis; Episodic kinesigenic dyskinesia 1; Seizures, benign familial infantile, 2; BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME
Early onset or syndromic epilepsy v9.43 PRRT2 Ida Ertmanska Publications for gene: PRRT2 were set to Wan et al (2011) Brain 134: 3493_3501; Chen et al (2011) Nature Genet 43(12): 1252-1256; Heron et al (2012) Am J Hum Genet 90: 152_160
Early onset or syndromic epilepsy v9.42 PRRT2 Ida Ertmanska Tag Q3_26_MOI tag was added to gene: PRRT2.
Early onset or syndromic epilepsy v9.42 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' and benign familial infantile seizures - 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. Epilepsy is the most consistent feature in reported patients. Hence, the MOI should be changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.
Early onset or syndromic epilepsy v9.42 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
Early onset or syndromic epilepsy v1.191 PRRT2 Rebecca Foulger Source Wessex and West Midlands GLH was added to PRRT2.
Early onset or syndromic epilepsy v1.190 PRRT2 Rebecca Foulger Source NHS GMS was added to PRRT2.
Early onset or syndromic epilepsy v1.189 PRRT2 Rebecca Foulger reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PRRT2 Tracy Lester reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23077018, 24101679, 22832103 ; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis,602066, Episodic kinesigenic dyskinesia,128200, Seizures, benign familial infantile,605751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy PRRT2 Sarah Leigh Added gene to panel