SH3KBP1

SH3 domain containing kinase binding protein 1
OMIM: 300374, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green SH3KBP1 in COVID-19 research


Level 2: Viral research
Version 1.142

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification December 2019
Phenotypes
  • Severe bacterial infections
  • SH3KBP1 (CIN85) deficiency
  • Predominantly Antibody Deficiencies
  • Immunodeficiency 61, 300310
Red SH3KBP1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • IUIS Classification December 2019
Phenotypes
  • SH3KBP1 (CIN85) deficiency
  • Severe bacterial infections
  • Predominantly Antibody Deficiencies
  • Immunodeficiency 61, 300310