1. Panels
  2. Intellectual disability syndromic and non-syndromic
  3. PDE2A
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: PDE2A

Amber List (moderate evidence)
PDE2A (phosphodiesterase 2A)
EnsemblGeneIds (GRCh38): ENSG00000186642
EnsemblGeneIds (GRCh37): ENSG00000186642
OMIM: 602658, Gene2Phenotype
PDE2A is in 4 panels

2 reviews

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 32467598: In a case report of 2 unrelated families with childhood-onset refractory paroxysmal dyskinesia with cognitive impairment, all three individuals had moderate or moderate to severe intellectual disability. Two siblings had a homozygous p.(Gln394*) variant, and the other individual was compound heterozygous for c.[1922+5G>A];[Pro149Leu].

PMID: 29392776: A case report of one individual with an infantile-onset chorea-predominant movement disorder with severe intellectual disability with a homozygous p.(Asp480Gly) variant. This variant severely decreases the enzymatic activity of PDE2A.

PMID: 37317634: 6 Pakistani individuals from 3 families with paroxysmal dyskinesia, developmental delay, cognitive abnormalities, speech impairment, and seizures with variable disease onset. All affected individuals had mild moderate, or severe intellectual disability. All individuals had the same homozygous missense variant p.(Phe505Ser), called a founder variant.
Created: 21 Dec 2023, 11:11 p.m. | Last Modified: 21 Dec 2023, 11:11 p.m.
Panel Version: 0.5653

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder with paroxysmal dyskinesia or seizures MIM#619150

Publications

Created: 21 Dec 2023, 11:11 p.m.
Last Modified: 21 Dec 2023, 11:11 p.m.
Panel version: 0.5653

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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'. Unclear at this time what proportion of affected individuals have ID as part of the phenotype.
Sources: Expert list
Created: 25 Aug 2020, 11:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Paroxysmal dyskinesia; Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150

Publications

Created: 25 Aug 2020, 11:25 p.m.

Panel version: 0.3418

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
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

31 Jan 2021, Gel status: 2

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

25 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Aug 2020, Gel status: 1

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 Intellectual disability syndromic and non-syndromic. Sources: Expert list 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 AMBER