PRKACA

protein kinase cAMP-activated catalytic subunit alpha
OMIM: 601639, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PRKACA in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.474

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardioacrofacial dysplasia 1, MIM# 619142
  • Postaxial hand polydactyly
  • Postaxial foot polydactyly
  • Common atrium
  • Atrioventricular canal defect
  • Narrow chest
  • Abnormality of the teeth
  • Intellectual disability

Green PRKACA in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.94

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardioacrofacial dysplasia 1, MIM# 619142
  • Postaxial hand polydactyly
  • Postaxial foot polydactyly
  • Common atrium
  • Atrioventricular canal defect
  • Narrow chest
  • Abnormality of the teeth
  • Intellectual disability

Green PRKACA in Mendeliome


Version 1.3512

3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Cardioacrofacial dysplasia 1, MIM# 619142
  • Postaxial hand polydactyly
  • Postaxial foot polydactyly
  • Common atrium
  • Atrioventricular canal defect
  • Narrow chest
  • Abnormality of the teeth
  • Intellectual disability
  • Pigmented nodular adrenocortical disease, primary, 4, MONDO:0014359

Green PRKACA in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.296

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cardioacrofacial dysplasia 1, MIM# 619142
    • Postaxial hand polydactyly
    • Postaxial foot polydactyly
    • Common atrium
    • Atrioventricular canal defect
    • Narrow chest
    • Abnormality of the teeth
    • Intellectual disability

    Green PRKACA in Fetal anomalies


    Version 1.465

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Expert list
    Phenotypes
    • Cardioacrofacial dysplasia 1-MIM#619142

    Green PRKACA in Primary pigmented nodular adrenocortical disease

    Level 3: Adrenal disorders
    Level 2: Endocrine disorders; Cancer Predisposition
    Version 0.12

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Pigmented nodular adrenocortical disease, primary, 4, MONDO:0014359