ALPK1

alpha kinase 1
OMIM: 607347, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
No list ALPK1 in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.24
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • ROSAH
    Green ALPK1 in Primary immunodeficiency or monogenic inflammatory bowel disease


    Level 2: Immunology
    Version 8.99
    Latest signed off version: v8.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • ROSAH syndrome, OMIM:614979
    Red ALPK1 in Paroxysmal central nervous system disorders


    Level 2: Neurology
    Version 4.3
    Latest signed off version: v4.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • Literature
    Phenotypes
    • ROSAH syndrome, OMIM:614979
    • optic nerve edema-splenomegaly syndrome, MONDO:0013999
    Green ALPK1 in Optic neuropathy


    Level 2: Ophthalmology
    Version 5.54
    Latest signed off version: v5.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    • Research
    • Literature
    Phenotypes
    • ROSAH syndrome, OMIM:614979
    Green ALPK1 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.116
    Latest signed off version: v8.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • ROSAH syndrome, OMIM:614979
    Green ALPK1 in Autoinflammatory disorders


    Level 2: Immunology
    Version 2.39
    Latest signed off version: v2.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    • Expert list
    Phenotypes
    • ROSAH syndrome, OMIM:614979