Ataxia - adult onset
Gene: PRRT2EnsemblGeneIds (GRCh38): ENSG00000167371
EnsemblGeneIds (GRCh37): ENSG00000167371
OMIM: 614386, Gene2Phenotype
PRRT2 is in 11 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
A large series of 40 patients from 36 families reported in PMID 33126500. All patients had benign infantile epilepsy and harbored pathogenic variants in PRRT2 (core cohort). Clinical data of 62 family members were included, comprising a cohort of 102 individuals (extended cohort) with PRRT2-associated neurological disease. Additional phenotypes in the cohort of patients with benign sporadic and familial infantile epilepsy consist of movement disorders with paroxysmal kinesigenic dyskinesia in six patients, infantile-onset movement disorders in 2 of 40 individuals, and episodic ataxia after mild head trauma in one girl with bi-allelic variants in PRRT2. The same girl displayed a focal cortical dysplasia upon brain imaging. Familial hemiplegic migraine and migraine with aura were reported in nine families. A single individual developed epilepsy with continuous spikes and waves during sleep. PRRT2 is a transmembrane protein involved in synaptic transmission, unclear if it is a channel, included in this panel due to phenotypic overlap.Created: 29 Dec 2020, 10:04 p.m. | Last Modified: 29 Dec 2020, 10:04 p.m.
Panel Version: 0.5869
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Convulsions, familial infantile, with paroxysmal choreoathetosis 602066; Episodic kinesigenic dyskinesia 1 128200; Seizures, benign familial infantile, 2 605751
Publications
Bryony Thompson (Royal Melbourne Hospital)
Ataxia can be a prominent feature of the condition, particularly in biallelic cases. Onset of ataxia is variable, from paediatric to adult.Created: 17 Apr 2020, 1:17 a.m. | Last Modified: 17 Apr 2020, 1:17 a.m.
Panel Version: 0.21
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Episodic kinesigenic dyskinesia 1 MIM#128200; Convulsions, familial infantile, with paroxysmal choreoathetosis MIM#602066; Seizures, benign familial infantile, 2 MIM#605751
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Familial infantile convulsions with paroxysmal dyskinesia 1, 602066
- CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
- episodic kinesigenic dyskinesia
- dystonia and occasionally hemiplegic migraine and epilepsy
- episodic kinesigenic dyskinesia, 128200
- EPISODIC KINESIGENIC DYSKINESIA 1
- SEIZURES, BENIGN FAMILIAL INFANTILE, 2
- OMIM
- 614386
- Clinvar variants
- Variants in PRRT2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PRRT2 was added gene: PRRT2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRRT2 were set to 26598494; 31193310; 30501978; 30713971 Phenotypes for gene: PRRT2 were set to Familial infantile convulsions with paroxysmal dyskinesia 1, 602066; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; episodic kinesigenic dyskinesia; dystonia and occasionally hemiplegic migraine and epilepsy; episodic kinesigenic dyskinesia, 128200; EPISODIC KINESIGENIC DYSKINESIA 1; SEIZURES, BENIGN FAMILIAL INFANTILE, 2