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

ERBIN

erbb2 interacting protein
OMIM: 606944, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber ERBIN in Mendeliome


Version 1.2302

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Combined immunodeficiency, MONDO:0015131, ERBIN-related
  • Recurrent respiratory infections
  • Susceptibility to S.aureus
  • Eczema
  • Hyperextensible joints
  • Scoliosis
  • Arterial dilatation in some

Amber ERBIN in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Combined immunodeficiency, MONDO:0015131, ERBIN-related
    • Recurrent respiratory infections
    • Susceptibility to S.aureus
    • Eczema
    • Hyperextensible joints
    • Scoliosis
    • Arterial dilatation in some