1. Panels
  2. Renal Tubulopathies and related disorders
  3. PDE3A
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Renal Tubulopathies and related disorders

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypertension and brachydactyly syndrome, MIM# 112410

Publications

Created: 30 Jan 2020, 4:34 a.m.
Last Modified: 30 Jan 2020, 4:34 a.m.
Panel version: Imported from Hypertension and Aldosterone disorders panel version 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Hypertension and brachydactyly syndrome, MIM# 112410
OMIM
123805
Clinvar variants
Variants in PDE3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PDE3A was added gene: PDE3A was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDE3A were set to 25961942 Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome, MIM# 112410