FCHO1

FCH domain only 1
OMIM: 613437, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red FCHO1 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.1

review Not set
Sources
  • Literature

Green FCHO1 in COVID-19 research


Level 2: Viral research
Version 1.77

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification December 2019
Phenotypes
  • Recurrent infections, lymphoproliferation, increased activation-induced T-cell death, defective clathrin-mediated endocytosis
  • FCHO1 deficiency
  • Immunodeficiencies affecting cellular and humoral immunity

Amber FCHO1 in Primary immunodeficiency


Version 2.427
Latest signed off version: v2.1 (24 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • IUIS Classification December 2019
Phenotypes
  • Recurrent infections, lymphoproliferation, increased activation-induced T-cell death, defective clathrin-mediated endocytosis
  • FCHO1 deficiency
  • Immunodeficiencies affecting cellular and humoral immunity
Tags
  • for-review