ALPK1

alpha kinase 1
OMIM: 607347, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green ALPK1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.88
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 4.2
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 5.48
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 8.100
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 2.35
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