This Panel is marked as Retired
Familial Genetic Generalised Epilepsies
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
1 review
Richard Scott (Genomics England Curator)
Comment on list classification: Insufficient data for this phenotypeCreated: 8 May 2016, 7 p.m.
Details
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- UKGTN
- OMIM
- 614386
- Clinvar variants
- Variants in PRRT2
- Penetrance
- Complete
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Hereditary ataxia
- Brain channelopathy
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Early onset or syndromic epilepsy
History Filter Activity
8 May 2016, Gel status: 1
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
6 May 2015, Gel status: 2
Added New Source
Eik Haraldsdottir (Genomics England)PRRT2 was added to Familial generalised epilepsypanel. Sources: Radboud University Medical Center, Nijmegen
6 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)PRRT2 was added to Familial generalised epilepsypanel. Sources: UKGTN