Brain channelopathy
Gene: PRRT2

PRRT2 (proline rich transmembrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000167371
EnsemblGeneIds (GRCh37): ENSG00000167371
OMIM: 614386, Gene2Phenotype
PRRT2 is in 13 panels

3 reviews

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: added the 'treatable' tag. changed penetrance to incomplete
Created: 18 Jan 2017, 2:48 p.m.

Created: 18 Jan 2017, 2:48 p.m.

Panel version: 0.68

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Incomplete penetrance. Most mutations cause premature termination. One common mutation:649dupC
Created: 6 Jan 2017, 3:08 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
paroxysmal kinesigenic dyskinesia; familial infantile convulsions with paroxysmal choreoathetosis

Publications

Created: 6 Jan 2017, 3:08 p.m.

Panel version: 0.26

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green as this gene is on the Brain Channel NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 3:19 p.m.

Created: 10 Jun 2016, 3:19 p.m.

Panel version: 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
UKGTN
Eligibility statement prior genetic testing

Phenotypes

CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
EPISODIC KINESIGENIC DYSKINESIA 1
SEIZURES, BENIGN FAMILIAL INFANTILE, 2
episodic kinesigenic dyskinesia
dystonia and occasionally hemiplegic migraine and epilepsy

Tags

treatable

OMIM

614386

Clinvar variants

Variants in PRRT2

Penetrance

Incomplete

Publications

Panels with this gene