ERBIN

erbb2 interacting protein
OMIM: 606944, Gene2Phenotype

2 panels

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


Level 2: Viral research
Version 1.146

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification December 2019
Phenotypes
  • ERBIN deficiency
  • Combined immunodeficiencies with associated or syndromic features
  • Recurrent respiratory infections, susceptibility to S. aureus, eczema, hyperextensible joints, scoliosis, arterial dilatation in some
Amber ERBIN in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • IUIS Classification December 2019
Phenotypes
  • ERBIN deficiency
  • Combined immunodeficiencies with associated or syndromic features
  • Recurrent respiratory infections, susceptibility to S. aureus, eczema, hyperextensible joints, scoliosis, arterial dilatation in some
Tags
  • new-gene-name