Dystonia - childhood onset
Gene: PRRT2EnsemblGeneIds (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
-
- 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
- OMIM
- 614386
- Clinvar variants
- Variants in PRRT2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- DDG2P
- Brain channelopathy
- Childhood onset dystonia, chorea or related movement disorder
- Paroxysmal central nervous system disorders
- Fetal anomalies
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
History Filter Activity
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
Added Tag
Eleanor Williams (Genomics England Curator)Tag treatable tag was added to gene: PRRT2.
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