Paroxysmal central nervous system disorders

Gene: PDE2A

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

• 32467598
• 32196122
• 29392776

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

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

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

• 29392776

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

Green List (high evidence)