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Ataxia - paediatric

Gene: PRRT2

Green List (high evidence)

PRRT2 (proline rich transmembrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000167371
EnsemblGeneIds (GRCh37): ENSG00000167371
OMIM: 614386, Gene2Phenotype
PRRT2 is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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)

Green List (high evidence)

Ataxia can be a prominent feature of the condition, particularly in biallelic cases. Onset of ataxia is variable, from paediatric to adult.
Sources: Expert list
Created: 17 Apr 2020, 1:18 a.m.

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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic kinesigenic dyskinesia 1 MIM#128200
  • Convulsions, familial infantile, with paroxysmal choreoathetosis MIM#602066
  • Seizures, benign familial infantile, 2 MIM#605751
OMIM
614386
Clinvar variants
Variants in PRRT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prrt2 has been classified as Green List (High Evidence).

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: prrt2 has been classified as Green List (High Evidence).

17 Apr 2020, Gel status: 1

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 - paediatric. Sources: Expert list Mode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PRRT2 were set to 26598494; 31193310; 30501978; 30713971 Phenotypes for gene: PRRT2 were set to Episodic kinesigenic dyskinesia 1 MIM#128200; Convulsions, familial infantile, with paroxysmal choreoathetosis MIM#602066; Seizures, benign familial infantile, 2 MIM#605751 Review for gene: PRRT2 was set to GREEN