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Ataxia and cerebellar anomalies - childhood onset v9.13 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 episodic ataxia. Cerebellar atrophy was also 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 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.
Ataxia and cerebellar anomalies - childhood onset v9.13 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 episodic ataxia. Cerebellar atrophy was also 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.
Ataxia and cerebellar anomalies - childhood onset v9.13 PRRT2 Ida Ertmanska Publications for gene: PRRT2 were set to
Ataxia and cerebellar anomalies - childhood onset v9.12 PRRT2 Ida Ertmanska Tag Q3_26_MOI tag was added to gene: PRRT2.
Ataxia and cerebellar anomalies - childhood onset v9.12 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
Ataxia and cerebellar anomalies - childhood onset v0.74 PRRT2 Louise Daugherty Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Episodic kinesigenic dyskinesia 1, 128200; Seizures, benign familial infantile, 2, 605751
Ataxia and cerebellar anomalies - childhood onset v0.5 PRRT2 Ellen McDonagh gene: PRRT2 was added
gene: PRRT2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown