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Primary immunodeficiency

Gene: ITPKB

Amber List (moderate evidence)

ITPKB (inositol-trisphosphate 3-kinase B)
EnsemblGeneIds (GRCh38): ENSG00000143772
EnsemblGeneIds (GRCh37): ENSG00000143772
OMIM: 147522, Gene2Phenotype
ITPKB is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Gene added by Zornitza Stark (Australian Genomics) with a recommended Red gene rating based on evidence provided. PMID: 31987846 describes a patient born of consanguineous Egyptian parents. The patient failed to thrive and had persistent thrush shortly after birth, recurrent pneumonias beginning at age 2 months, and Klebsiella pneumoniae skin abscesses at age 6 and 10 months. She had severe SCID.

PMID: 14517551 is a itpkb-/- mouse. Knockout of the gene caused a severe T cell deficiency. Based on these 2 pieces of information the gene has been given an Amber gene rating.
Created: 5 May 2020, 10:43 a.m. | Last Modified: 5 May 2020, 10:43 a.m.
Panel Version: 2.147

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single individual with homozygous bi-allelic LoF variant reported.
Sources: Literature
Created: 1 May 2020, 12:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe combined immunodeficiency, absent T cells, present B cells and NK cells

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Severe combined immunodeficiency, absent T cells, present B cells and NK cells
OMIM
147522
Clinvar variants
Variants in ITPKB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: itpkb has been classified as Amber List (Moderate Evidence).

5 May 2020, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ITPKB were set to 31987846

1 May 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ITPKB was added gene: ITPKB was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: ITPKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITPKB were set to 31987846 Phenotypes for gene: ITPKB were set to Severe combined immunodeficiency, absent T cells, present B cells and NK cells Review for gene: ITPKB was set to RED