PanelApp (stage)
  1. Genes and Genomic Entities
  2. ALPK1

ALPK1

alpha kinase 1
OMIM: 607347, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ALPK1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome
  • Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979

Green ALPK1 in Systemic Autoinflammatory Disease_Periodic Fever


Level 2: Immunological disorders
Version 1.47

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979
    • Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome

    Green ALPK1 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.209

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979