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 - childhood onset


Level 2: Neurology
Version 8.7
Latest signed off version: v8.6 (12 Aug 2026)

Component of the following Super Panels:

  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • 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 9.105
    Latest signed off version: v9.91 (12 Aug 2026)

    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 4.7
    Latest signed off version: v4.6 (12 Aug 2026)

    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 6.51
    Latest signed off version: v6.46 (12 Aug 2026)

    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 9.19
    Latest signed off version: v9.14 (12 Aug 2026)

    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 3.21
    Latest signed off version: v3.16 (12 Aug 2026)

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