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Limb disorders

Gene: PDE3A

Green List (high evidence)

PDE3A (phosphodiesterase 3A)
EnsemblGeneIds (GRCh38): ENSG00000172572
EnsemblGeneIds (GRCh37): ENSG00000172572
OMIM: 123805, Gene2Phenotype
PDE3A is in 2 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Genomics England clinical team notes - Agree with green rating. Brachdactyly likely first symptom noted
Created: 9 Sep 2018, 5:51 p.m.

Ellen McDonagh (Genomics England Curator)

PMID: 25961942 different missense variants identified in 6 unrelated families.
Created: 9 Apr 2018, 3:05 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hypertension and brachydactyly syndrome 112410

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Hypertension and brachydactyly syndrome 112410
OMIM
123805
Clinvar variants
Variants in PDE3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: PMID: 25961942 different misse

9 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PDE3A was added to Limb disorders panel. Sources: Other

9 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PDE3A was created by Ellen McDonagh