Brain channelopathy

Gene: PRRT2

Green List (high evidence)

PRRT2 (proline rich transmembrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000167371
EnsemblGeneIds (GRCh37): ENSG00000167371
OMIM: 614386, Gene2Phenotype
PRRT2 is in 15 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.

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

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.

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

History Filter Activity

21 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Jan 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1. January 23 2017

18 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Jan 2017, Gel status: 4

Set publications

Arianna Tucci (Genomics England Curator)

Publications for PRRT2 were set to 22399141; 22744660; 22120146; 22101681

18 Jan 2017, Gel status: 4

Set Mode of Inheritance

Arianna Tucci (Genomics England Curator)

Mode of inheritance for PRRT2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PRRT2 were set to 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

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PRRT2 was added to Brain channelopathypanel. Sources: UKGTN

5 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PRRT2 was added to Brain channelopathypanel. Sources: Eligibility statement prior genetic testing