ALPK1

alpha kinase 1
OMIM: 607347, Gene2Phenotype

4 panels

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


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ROSAH syndrome, OMIM:614979
  • optic nerve edema-splenomegaly syndrome, MONDO:0013999
Tags
  • Q3_23_promote_green
  • Q3_23_MOI
Green ALPK1 in Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.30
Latest signed off version: v4.0 (22 Mar 2023)

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 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.11
Latest signed off version: v5.0 (1 May 2024)

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