PanelApp (staging)
  1. Genes and Genomic Entities
  2. ALPK3

ALPK3

alpha kinase 3
OMIM: 617608, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ALPK3 in Dilated Cardiomyopathy


Level 2: Cardiovascular disorders
Version 1.37

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, familial hypertrophic 27, MIM# 618052

    Green ALPK3 in Hypertrophic cardiomyopathy_HCM


    Level 2: Cardiovascular disorders
    Version 1.0

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel

    		•  2 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, familial hypertrophic 27, MIM# 618052

    Amber ALPK3 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.324

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Cardiomyopathy, familial hypertrophic 27, MIM# 618052

    Green ALPK3 in Mendeliome


    Version 1.2302

    		1 review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, familial hypertrophic 27, MIM# 618052

    Green ALPK3 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Cardiomyopathy, familial hypertrophic 27, 618052

    Green ALPK3 in Fetal anomalies


    Version 1.313

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert list
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Cardiomyopathy, familial hypertrophic 27 - #618052

    Green ALPK3 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    		0 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, familial hypertrophic 27, MIM#618052