PanelApp (staging)
  1. Genes and Genomic Entities
  2. ITPKB

ITPKB

inositol-trisphosphate 3-kinase B
OMIM: 147522, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red ITPKB in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Severe combined immunodeficiency MONDO:0015974, absent T cells, present B cells and NK cells

Red ITPKB in Severe Combined Immunodeficiency (absent T present B cells)


Level 2: Immunological disorders
Version 1.9

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Severe combined immunodeficiency, absent T cells, present B cells and NK cells