Paroxysmal Dyskinesia
Gene: PDE2AEnsemblGeneIds (GRCh38): ENSG00000186642
EnsemblGeneIds (GRCh37): ENSG00000186642
OMIM: 602658, Gene2Phenotype
PDE2A is in 4 panels
2 reviews
Shekeeb Mohammad (Children's Hospital at Westmead)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
paroxysmal dyskinesia; intellectual disability; drug resistant epilepsy; progressive neurological decline; chorea
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four unrelated families reported with childhood-onset refractory paroxysmal dyskinesia with cognitive impairment, sometimes associated with choreodystonia and interictal baseline EEG abnormalities or epilepsy. One of the reports characterises the disorder as 'Rett-like'.
Sources: LiteratureCreated: 25 Aug 2020, 10:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Paroxysmal dyskinesia; Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Paroxysmal dyskinesia
- Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150
- OMIM
- 602658
- Clinvar variants
- Variants in PDE2A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PDE2A were set to 32467598; 32196122; 29392776
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PDE2A were changed from Paroxysmal dyskinesia to Paroxysmal dyskinesia; Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pde2a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pde2a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PDE2A was added gene: PDE2A was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: PDE2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE2A were set to 32467598; 32196122; 29392776 Phenotypes for gene: PDE2A were set to Paroxysmal dyskinesia Review for gene: PDE2A was set to GREEN