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  3. CHUK
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Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: CHUK

Red List (low evidence)
CHUK (conserved helix-loop-helix ubiquitous kinase)
EnsemblGeneIds (GRCh38): ENSG00000213341
EnsemblGeneIds (GRCh37): ENSG00000213341
OMIM: 600664, Gene2Phenotype
CHUK is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Inga Nartisa. Biallelic variants are typically associated with Cocoon syndrome (MIM# 613630; definitive in G2P) or Popliteal pterygium syndrome (MIM# 619339), but immune deficits are not known to be associated. Only a single patient with a history of recurrent pneumonias and failure to thrive identified to date with a homozygous variant in this gene (PMID: 34533979). Therefore, rating Red for now, awaiting further cases/reports that corroborate this association.
Created: 17 May 2023, 2:09 p.m. | Last Modified: 17 May 2023, 2:09 p.m.
Panel Version: 4.12
Created: 17 May 2023, 2:09 p.m.
Last Modified: 17 May 2023, 2:09 p.m.
Panel version: 4.12

Inga Nartisa (researcher)

Green List (high evidence)

Sources: Expert Review, Literature
Created: 29 Nov 2022, 9:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
recurrent infections; skeletal abnormalities; absent secondary lymphoid structures; reduced B cell numbers; hypogammaglobulinemia; lymphocytic infiltration of intestine and liver

Publications

Created: 29 Nov 2022, 9:03 a.m.

Panel version: 2.582

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • recurrent infections
  • skeletal abnormalities
  • absent secondary lymphoid structures
  • reduced B cell numbers
  • hypogammaglobulinemia
  • lymphocytic infiltration of intestine and liver
OMIM
600664
Clinvar variants
Variants in CHUK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 May 2023, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CHUK were set to PMID: 35748970; PMID: 34533979

17 May 2023, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: chuk has been classified as Red List (Low Evidence).

29 Nov 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Inga Nartisa (researcher)

gene: CHUK was added gene: CHUK was added to Primary immunodeficiency. Sources: Expert Review,Literature Mode of inheritance for gene: CHUK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHUK were set to PMID: 35748970; PMID: 34533979 Phenotypes for gene: CHUK were set to recurrent infections; skeletal abnormalities; absent secondary lymphoid structures; reduced B cell numbers; hypogammaglobulinemia; lymphocytic infiltration of intestine and liver Review for gene: CHUK was set to GREEN