SH3KBP1

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red SH3KBP1 in Mendeliome


Version 1.1902

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Immunodeficiency 61, MIM# 300310
Tags
  • SV/CNV

Red SH3KBP1 in Predominantly Antibody Deficiency


Level 2: Immunological disorders
Version 0.135

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Immunodeficiency 61, MIM# 300310
    Tags
    • SV/CNV