PanelApp (staging)
  1. Genes and Genomic Entities
  2. PDE3A

PDE3A

phosphodiesterase 3A
OMIM: 123805, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green PDE3A in Mendeliome


Version 1.2302

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypertension and brachydactyly syndrome - MIM#112410

Green PDE3A in Hypertension and Aldosterone disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.15

Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • KidGen_AldoHypertension v38.1.0
    Phenotypes
    • Hypertension and brachydactyly syndrome, MIM# 112410

    Green PDE3A in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.302

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • NHS GMS
    Phenotypes
    • Hypertension and brachydactyly syndrome, 112410

    Green PDE3A in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hypertension and brachydactyly syndrome MIM#112410

    Green PDE3A in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.76

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Hypertension and brachydactyly syndrome, 112410

    Green PDE3A in Fetal anomalies


    Version 1.313

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hypertension and brachydactyly syndrome - #112410

    Green PDE3A in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.17

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review 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