Hereditary ataxia
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
2 reviews
Damian Smedley (Genomics England Curator)
Comment on list classification: Evidence from OMIM and expert reviewerCreated: 4 Feb 2016, 5:11 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Decent amounts of evidence in lit. Mode of pathogenicity: Loss-of-function?Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066
- Episodic kinesigenic dyskinesia 1, 128200
- Seizures, benign familial infantile, 2, 605751
- OMIM
- 614386
- Clinvar variants
- Variants in PRRT2
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Hereditary ataxia
- Brain channelopathy
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
History Filter Activity
9 Jan 2019, Gel status: 3
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Episodic kinesigenic dyskinesia 1, 128200; Seizures, benign familial infantile, 2, 605751
4 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
4 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PRRT2 was added to Hereditary ataxiapanel. Sources: UKGTN