1. Panels
  2. Severe Combined Immunodeficiency (absent T present B cells)
  3. ITPKB
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Severe Combined Immunodeficiency (absent T present B cells)

Gene: ITPKB

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual with homozygous bi-allelic LoF variant reported.
Sources: Literature
Created: 30 Apr 2020, 7:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 30 Apr 2020, 7:51 a.m.

Panel version: 0.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
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

30 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itpkb has been classified as Red List (Low Evidence).

30 Apr 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ITPKB were set to

30 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ITPKB was added gene: ITPKB was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature Mode of inheritance for gene: ITPKB was set to BIALLELIC, autosomal or pseudoautosomal 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