PRKACB

protein kinase cAMP-activated catalytic subunit beta
OMIM: 176892, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green PRKACB in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.35

3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardioacrofacial dysplasia 2, MONDO:0030877

Green PRKACB in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.18

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Cardioacrofacial dysplasia 2, MONDO:0030877

Green PRKACB in Mendeliome


Version 2.604

3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardioacrofacial dysplasia 2, MONDO:0030877

Green PRKACB in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.20

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • 3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cardioacrofacial dysplasia 2, MONDO:0030877

    Green PRKACB in Skeletal Ciliopathies


    Level 2: Skeletal disorders
    Version 2.5

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Cardioacrofacial dysplasia 2, MONDO:0030877

    Green PRKACB in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.145

    3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cardioacrofacial dysplasia 2, MONDO:0030877

    Green PRKACB in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.152

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Cardioacrofacial dysplasia 2, MONDO:0030877

    Green PRKACB in Fetal anomalies


    Version 2.82

    3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Literature
    • Literature
    Phenotypes
    • Cardioacrofacial dysplasia 2, MONDO:0030877