1. Panels
  2. Disorders of immune dysregulation
  3. ITK
STRs in panel
Prev Next
Regions in panel
Prev Next

Disorders of immune dysregulation

Gene: ITK

Green List (high evidence)
ITK (IL2 inducible T-cell kinase)
EnsemblGeneIds (GRCh38): ENSG00000113263
EnsemblGeneIds (GRCh37): ENSG00000113263
OMIM: 186973, Gene2Phenotype
ITK is in 8 panels

2 reviews

Danielle Ariti (University of Melbourne)

Green List (high evidence)

7 individuals from 5 unrelated families reported homozygous (missense/ nonsense) ITK variants consistent with Lymphoproliferative syndrome phenotype.

Two ITK-deficient mouse models demonstrated reduced T cells (CD4+), causing decreased CD4 to CD8 ratio.

Patients displayed early onset of features typically including fever, lymphadenopathy, autoimmune disorders, low immunoglobulins and high EBV viral load.
Created: 3 Aug 2021, 3:43 a.m. | Last Modified: 3 Aug 2021, 3:43 a.m.
Panel Version: 0.8614

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lymphoproliferative syndrome 1 MIM# 613011; Lymphadenopathy; Recurrent infections; Hypogammaglobulinaemia; Evidence of EBV infection; EBV associated B cell Lymphoproliferation; High EBV viral load; Normal-low serum Ig; Depleted CD4+ T cells; Anaemia; Thrombocytopaenia; Hepatosplenomegaly

Publications

Created: 3 Aug 2021, 3:43 a.m.
Last Modified: 3 Aug 2021, 3:43 a.m.
Panel version: Imported from Mendeliome panel version 0.8614

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least three unrelated families reported.
Sources: Expert list
Created: 5 Apr 2020, 4:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lymphoproliferative syndrome 1, MIM# 613011; EBV associated B call lymphoproliferation, lymphoma

Publications

Created: 5 Apr 2020, 4:34 a.m.

Panel version: 0.42

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lymphoproliferative syndrome 1, MIM# 613011
  • EBV associated B call lymphoproliferation, lymphoma
OMIM
186973
Clinvar variants
Variants in ITK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itk has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itk has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ITK was added gene: ITK was added to Disorders of immune dysregulation. Sources: Expert list Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITK were set to 19425169; 22289921; 21109689 Phenotypes for gene: ITK were set to Lymphoproliferative syndrome 1, MIM# 613011; EBV associated B call lymphoproliferation, lymphoma Review for gene: ITK was set to GREEN