Epileptic encephalopathy
Gene: PRRT2EnsemblGeneIds (GRCh38): ENSG00000167371
EnsemblGeneIds (GRCh37): ENSG00000167371
OMIM: 614386, Gene2Phenotype
PRRT2 is in 13 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
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)
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)
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)
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
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
-
- Expert Review Green
- Expert
- UKGTN
- 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
- Complete
- 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
-
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Brain channelopathy
- Ataxia and cerebellar anomalies - narrow panel
- Paroxysmal central nervous system disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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; BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PRRT2 were set to 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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PRRT2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)PRRT2 was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PRRT2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)PRRT2 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)PRRT2 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert