1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. PDE2A
Genes in panel
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Adult onset dystonia, chorea or related movement disorder

Gene: PDE2A

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

PMID: 29392776 Only identified in one family with infantile onset chorea predominant movement disorder, not enough evidence to rate Green unless additional evidence from labs. it is currently not associated with any phenotypes in OMIM or G2P
Created: 13 Nov 2019, 3:19 p.m. | Last Modified: 13 Nov 2019, 3:20 p.m.
Panel Version: 0.130
Comment on list classification: downgraded to Amber until evidence from GLH
Created: 13 Nov 2019, 3:17 p.m. | Last Modified: 13 Nov 2019, 3:17 p.m.
Panel Version: 0.130
Review and rating submitted by James Polke, unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m. | Last Modified: 29 Sep 2019, 2:31 p.m.
Panel Version: 0.125
Created: 23 Apr 2019, 1:19 p.m.
Last Modified: 13 Nov 2019, 3:20 p.m.
Panel version: 0.130

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

Green List (high evidence)

Created: 23 Apr 2019, 1:13 p.m.

Panel version: 0.53

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • London North GLH
Phenotypes
  • Intellectual developmental disorder with paroxysmal dyskinesia or seizures, OMIM:619150
OMIM
602658
Clinvar variants
Variants in PDE2A
Penetrance
None
Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PDE2A were changed from to Intellectual developmental disorder with paroxysmal dyskinesia or seizures, OMIM:619150

29 Mar 2021, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

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

13 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: pde2a has been classified as Amber List (Moderate Evidence).

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: pde2a has been classified as Green List (High Evidence).

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PDE2A.

23 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PDE2A was added gene: PDE2A was added to Adult onset movement disorder. Sources: London North GLH Mode of inheritance for gene: PDE2A was set to