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  3. PDE3A
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Stroke

Gene: PDE3A

Green List (high evidence)
PDE3A (phosphodiesterase 3A)
EnsemblGeneIds (GRCh38): ENSG00000172572
EnsemblGeneIds (GRCh37): ENSG00000172572
OMIM: 123805, Gene2Phenotype
PDE3A is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Stroke is a prominent feature of the condition if left untreated.
Sources: Literature
Created: 12 May 2020, 5:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypertension and brachydactyly syndrome MIM#112410

Publications

Created: 12 May 2020, 5:33 a.m.

Panel version: 0.39

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypertension and brachydactyly syndrome MIM#112410
OMIM
123805
Clinvar variants
Variants in PDE3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pde3a has been classified as Green List (High Evidence).

12 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pde3a has been classified as Green List (High Evidence).

12 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PDE3A was added gene: PDE3A was added to Stroke. Sources: Literature Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDE3A were set to 31589936; 25961942; 30356112 Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome MIM#112410 Review for gene: PDE3A was set to GREEN