ERBIN

erbb2 interacting protein
OMIM: 606944, Gene2Phenotype

3 panels

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


Level 2: Viral research
Version 1.142

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


Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

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
Amber ERBIN in Autism


Version 0.36

review Not set
Sources
  • Expert Review Amber
  • SFARI