This Panel is marked as Retired
Epilepsy Plus
Gene: PRRT2
PRRT2 (proline rich transmembrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000167371
EnsemblGeneIds (GRCh37): ENSG00000167371
OMIM: 614386, Gene2Phenotype
PRRT2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000167371
EnsemblGeneIds (GRCh37): ENSG00000167371
OMIM: 614386, Gene2Phenotype
PRRT2 is in 13 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Radboud University Medical Center, Nijmegen
- Expert
- Expert Review Green
- 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
8 Sep 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)PRRT2 was added to Epilepsy Pluspanel. Source: Radboud University Medical Center, Nijmegen
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PRRT2 was created by ellenmcdonagh
8 Sep 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)PRRT2 was added to Epilepsy Pluspanel. Sources: UKGTN,Expert,Expert Review Green