1. Genes and Genomic Entities
  2. ALPK3

ALPK3

alpha kinase 3
OMIM: 617608, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green ALPK3 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.95

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nonimmune hydrops fetalis
Green ALPK3 in Hypertrophic cardiomyopathy


Level 2: Cardiology
Version 5.29
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cardiomyopathy, familial hypertrophic 27, OMIM:618052
    Green ALPK3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.157
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Cardiomyopathy, familial hypertrophic 27, OMIM:618052
    Green ALPK3 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 7.98
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Cardiomyopathy, familial hypertrophic 27, 618052