Paroxysmal central nervous system disorders

Gene: PDE2A

Amber List (moderate evidence)

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

5 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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'.
Created: 7 Sep 2020, 8:44 p.m. | Last Modified: 7 Sep 2020, 8:44 p.m.
Panel Version: 1.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Paroxysmal dyskinesia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Robyn Labrum (UCLH NHS Trust)

I don't know

Only identified in one family with infantile onset chorea predominant movement disorder. Only sufficient evidence for amber.
Created: 23 Sep 2019, 3:56 p.m. | Last Modified: 24 Sep 2019, 11:56 a.m.
Panel Version: 0.138

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
infantile?onset chorea?predominant movement disorder

Penny Clouston (Oxford)

I don't know

PMID: 29392776. AR. Any other evidence?
Created: 23 Sep 2019, 12:51 p.m. | Last Modified: 23 Sep 2019, 12:51 p.m.
Panel Version: 0.95

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Demoted PDE2A from Green to Amber based on updated Amber reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH: insufficient evidence to support a gene:disease association at this time.
Created: 23 Sep 2019, 4:21 p.m. | Last Modified: 24 Sep 2019, 10:58 a.m.
Panel Version: 0.123
Comment on mode of inheritance: Set Mode of Inheritance as biallelic to match MOI suggestions from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Created: 23 Sep 2019, 4:09 p.m. | Last Modified: 23 Sep 2019, 4:09 p.m.
Panel Version: 0.104
Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green/Amber- an Amber review was uploaded based on the associated comment suggesting limited evidence.
Created: 23 Sep 2019, 3:57 p.m. | Last Modified: 23 Sep 2019, 4:19 p.m.
Panel Version: 0.106
Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. This rating is for a gene (PDE2A) previously added to the panel by London North GLH. Suggested rating: Amber.
Created: 23 Sep 2019, 12:53 p.m. | Last Modified: 23 Sep 2019, 12:53 p.m.
Panel Version: 0.96
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26

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

Green List (high evidence)

Details

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

History Filter Activity

24 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

23 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

23 Sep 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

23 Sep 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: PDE2A were set to

23 Sep 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

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

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PDE2A.

2 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Rebecca Foulger (Genomics England curator)

gene: PDE2A was added gene: PDE2A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green,London North GLH Mode of inheritance for gene: PDE2A was set to