PanelApp (staging)
  1. Genes and Genomic Entities
  2. CHUK

CHUK

conserved helix-loop-helix ubiquitous kinase
OMIM: 600664, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CHUK in Mendeliome


Version 1.2302

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiency, MONDO:0015131, CHUK-related
  • Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339
  • Cocoon syndrome, MIM# 613630
  • AEC-like syndrome

Green CHUK in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Combined immunodeficiency, MONDO:0015131, CHUK-related

    Amber CHUK in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.76

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • ?Popliteal pterygium syndrome, Bartsocas-Papas type 2 MIM#619339
    • Cocoon syndrome MIM#613630

    Amber CHUK in Fetal anomalies


    Version 1.313

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    Phenotypes
    • Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339
    • Cocoon syndrome, MIM# 613630
    • AEC-like syndrome