PanelApp
  1. Genes and Genomic Entities
  2. ALPK1

ALPK1

alpha kinase 1
OMIM: 607347, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ALPK1 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • ROSAH syndrome, MIM# 614979

    Green ALPK1 in Mendeliome


    Version 1.3795

    		1 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 Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 2.40

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews 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 0.234

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 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