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  2. Dystonia - isolated/combined
  3. PRRT2
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Dystonia - isolated/combined

Gene: PRRT2

Green List (high evidence)
PRRT2 (proline rich transmembrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000167371
EnsemblGeneIds (GRCh37): ENSG00000167371
OMIM: 614386, Gene2Phenotype
PRRT2 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Paroxysmal kinesigenic choreoathetosis (PKC) is an autosomal dominant neurologic condition characterized by recurrent and brief attacks of involuntary movement triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. Symptoms become less severe with age.

Over 30 families reported.
Created: 29 Apr 2021, 8:18 a.m. | Last Modified: 29 Apr 2021, 8:18 a.m.
Panel Version: 0.50

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic kinesigenic dyskinesia 1, MIM# 128200; MONDO:0007494

Publications

Created: 29 Apr 2021, 8:18 a.m.
Last Modified: 29 Apr 2021, 8:18 a.m.
Panel version: 0.50

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Episodic kinesigenic dyskinesia 1, MIM# 128200
  • MONDO:0007494
OMIM
614386
Clinvar variants
Variants in PRRT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prrt2 has been classified as Green List (High Evidence).

29 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRRT2 were changed from dystonia and occasionally hemiplegic migraine and epilepsy; episodic kinesigenic dyskinesia; SEIZURES, BENIGN FAMILIAL INFANTILE, 2; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; Episodic kinesigenic dyskinesia 1, 128200 to Episodic kinesigenic dyskinesia 1, MIM# 128200; MONDO:0007494

29 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRRT2 were set to

27 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

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