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Genetic epilepsy syndromes

Gene: PRRT2

Green List (high evidence)

PRRT2 (proline rich transmembrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000167371
EnsemblGeneIds (GRCh37): ENSG00000167371
OMIM: 614386, Gene2Phenotype
PRRT2 is in 14 panels

8 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AD benign familial infantile seizures 2 (BFIS2), AD episodic kinesigenic dyskinesia 1 (EKD1), AD familial infantile convulsions with paroxysmal choreoathetosis (ICCA).Wang et al, 2011 - 2 large Han Chinese families - 2 diff het truncating variants - completely segregated with phenotype (EKD1) and 2 patients in each family had ICCA. Heron et al, 2012 - 5/6 families with ICCA identified 1 of 3 diff het mutations. Het PRRT2 mutations were also found in 14/17 families with BFIS2), common mutation seen - 649insC. Lee et al, 2012 - het mutations in this gene in affected families with ICCA - identified mutations in 24/25 additional families, again 649insC most common. Ono et al, 2012 - idenitifed 649dupC in 14/15 Japanese famiies with EKD1 some of whichg also had ICCA, and 2 families with BFIS2. In one family - arisen de novo.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Convulsions, familial infantile, with paroxysmal choreoathetosis,602066; Episodic kinesigenic dyskinesia,128200; Seizures, benign familial infantile,605751

Publications

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Convulsions, familial infantile, with paroxysmal choreoathetosis; Episodic kinesigenic dyskinesia 1; Seizures, benign familial infantile, 2

Publications

  • Wan et al (2011) Brain 134: 3493_3501
  • Chen et al (2011) Nature Genet 43(12): 1252-1256
  • Heron et al (2012) Am J Hum Genet 90: 152_160

Variants in this GENE are reported as part of current diagnostic practice

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Convulsions, familial infantile, with paroxysmal choreoathetosis; Episodic kinesigenic dyskinesia 1; Seizures, benign familial infantile, 2

Publications

  • Wan et al (2011) Brain 134: 3493_3501
  • Chen et al (2011) Nature Genet 43(12): 1252-1256
  • Heron et al (2012) Am J Hum Genet 90: 152_160

Variants in this GENE are reported as part of current diagnostic practice

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Convulsions, familial infantile, with paroxysmal choreoathetosis; Episodic kinesigenic dyskinesia 1; Seizures, benign familial infantile, 2

Publications

  • Wan et al (2011) Brain 134: 3493_3501
  • Chen et al (2011) Nature Genet 43(12): 1252-1256
  • Heron et al (2012) Am J Hum Genet 90: 152_160

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Convulsions, familial infantile, with paroxysmal choreoathetosis; Episodic kinesigenic dyskinesia 1; Seizures, benign familial infantile, 2

Publications

  • Wan et al (2011) Brain 134: 3493 3501
  • Chen et al (2011) Nature Genet 43(12): 1252-1256
  • Heron et al (2012) Am J Hum Genet 90: 152 160

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (Genomics England Curator)

Comment on list classification: Insufficient data for this phenotype
Created: 8 May 2016, 7 p.m.

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Confirmed DD gene and all 4 reviewers agree this should be green. Mode of inheritance and loss-of-function mechanism confirmed.
Created: 21 Jan 2016, 11:41 a.m.
Comment on mode of inheritance: Confirmed with G2P and OMIM, and not on imprinted gene list.
Created: 21 Jan 2016, 11:40 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • UKGTN
  • Expert
Phenotypes
  • Convulsions, familial infantile, with paroxysmal choreoathetosis
  • Episodic kinesigenic dyskinesia 1
  • Seizures, benign familial infantile, 2
  • BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME
OMIM
614386
Clinvar variants
Variants in PRRT2
Penetrance
None
Publications
  • Wan et al (2011) Brain 134: 3493_3501
  • Chen et al (2011) Nature Genet 43(12): 1252-1256
  • Heron et al (2012) Am J Hum Genet 90: 152_160
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PRRT2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PRRT2.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to PRRT2. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to PRRT2. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

PRRT2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert,UKGTN,Expert Review Green

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

PRRT2 was created by Sarah Leigh