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Newborns main panel

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://search.clinicalgenome.org/kb/genes/HGNC:6171
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

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

History Filter Activity

7 Mar 2025, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration was removed from gene: ITK.

12 Feb 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ITK were changed from ITK related Immune dysregulation 1 to Lymphoproliferative syndrome 1

12 Feb 2025, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: ITK.

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ITK were changed from ITK related lymphoproliferative syndrome 2 to ITK related Immune dysregulation 1

16 Nov 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: ITK were changed from Lymphoproliferative syndrome 2 to ITK related lymphoproliferative syndrome 2

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Lymphoproliferative syndrome 2 for gene: ITK

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Lymphoproliferative syndrome 2 for gene: ITK

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Lymphoproliferative syndrome 2 for gene: ITK

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to ITK. Added phenotypes Lymphoproliferative syndrome 2 for gene: ITK Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to ITK. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Lymphoproliferative syndrome 2 for gene: ITK

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: ITK was added gene: ITK was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal