Autoimmune Lymphoproliferative Syndrome
Gene: ITKEnsemblGeneIds (GRCh38): ENSG00000113263
EnsemblGeneIds (GRCh37): ENSG00000113263
OMIM: 186973, Gene2Phenotype
ITK is in 8 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
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: LiteratureCreated: 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
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: itk has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: itk has been classified as Green List (High Evidence).
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