Dystonia - childhood onset

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

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions
  • episodic kinesigenic dyskinesia
  • CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
  • SEIZURES, BENIGN FAMILIAL INFANTILE, 2
  • dystonia and occasionally hemiplegic migraine and epilepsy
  • Episodic kinesigenic dyskinesia 1, 128200
Tags
treatable
OMIM
614386
Clinvar variants
Variants in PRRT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

Added Tag

Eleanor Williams (Genomics England Curator)

Tag treatable tag was added to gene: PRRT2.

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: PRRT2 was added gene: PRRT2 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRRT2 were set to 22744660; 22101681; 20301334; 22120146; 22399141 Phenotypes for gene: PRRT2 were set to Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; episodic kinesigenic dyskinesia; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; SEIZURES, BENIGN FAMILIAL INFANTILE, 2; dystonia and occasionally hemiplegic migraine and epilepsy; Episodic kinesigenic dyskinesia 1, 128200