Autoimmune Lymphoproliferative Syndrome

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

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.
Sources: Literature
Created: 22 Nov 2024, 5:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lymphoproliferative syndrome 1 MIM#613011

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

22 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

22 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

22 Nov 2024, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: ITK was added gene: ITK was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITK were set to 19425169; 22289921; 25061172; 26056787; 9311799; 10213685 Phenotypes for gene: ITK were set to Lymphoproliferative syndrome 1 MIM#613011 Review for gene: ITK was set to GREEN gene: ITK was marked as current diagnostic