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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: ITK

Green List (high evidence)

ITK (IL2 inducible T-cell kinase)
EnsemblGeneIds (GRCh38): ENSG00000113263
EnsemblGeneIds (GRCh37): ENSG00000113263
OMIM: 186973, Gene2Phenotype
ITK is in 4 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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

7 Apr 2020, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

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