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  2. Childhood onset dystonia, chorea or related movement disorder
  3. PDE2A
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Childhood onset dystonia, chorea or related movement disorder

Gene: PDE2A

Green List (high evidence)
PDE2A (phosphodiesterase 2A)
EnsemblGeneIds (GRCh38): ENSG00000186642
EnsemblGeneIds (GRCh37): ENSG00000186642
OMIM: 602658, Gene2Phenotype
PDE2A is in 3 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Based on Paroxysmal central nervous system disorders gene panel, version 1.0.
Created: 6 Dec 2019, 6:09 p.m. | Last Modified: 6 Dec 2019, 6:09 p.m.
Panel Version: 0.106
Created: 6 Dec 2019, 6:09 p.m.
Last Modified: 6 Dec 2019, 6:09 p.m.
Panel version: 0.106

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • infantile‐onset chorea‐predominant movement disorder
OMIM
602658
Clinvar variants
Variants in PDE2A
Penetrance
None
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: PDE2A was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

6 Dec 2019, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: PDE2A were changed from to infantile‐onset chorea‐predominant movement disorder

6 Dec 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: PDE2A was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: PDE2A was added gene: PDE2A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PDE2A was set to