1. Genes and Genomic Entities
  2. CHUK

CHUK

conserved helix-loop-helix ubiquitous kinase
OMIM: 600664, Gene2Phenotype

4 panels

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


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Expert Review
Phenotypes
  • recurrent infections
  • skeletal abnormalities
  • absent secondary lymphoid structures
  • reduced B cell numbers
  • hypogammaglobulinemia
  • lymphocytic infiltration of intestine and liver
Green CHUK in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.196
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Cocoon syndrome, OMIM:613630
  • Popliteal pterygium syndrome, Bartsocas-Papas type 2, OMIM:619339
Green CHUK in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • COCOON SYNDROME 613630
    Red CHUK in Intellectual disability


    Level 2: Developmental disorders
    Version 9.400
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Cocoon syndrome, 613630