PanelApp
  1. Genes and Genomic Entities
  2. FCHO1

FCHO1

FCH domain only 1
OMIM: 613437, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green FCHO1 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 76, MIM# 619164
  • Combined immunodeficiency
  • T cells: low, poor proliferation
  • B cells: normal number
  • Recurrent infections (viral, mycobacteria, bacterial, fungal)
  • lymphoproliferation
  • Failure to thrive
  • Increased activation-induced T-cell death
  • Defective clathrin-mediated endocytosis

Green FCHO1 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.138

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency 76, MIM# 619164
    • Combined immunodeficiency
    • T cells: low, poor proliferation
    • B cells: normal number
    • Recurrent infections (viral, mycobacteria, bacterial, fungal)
    • lymphoproliferation
    • Failure to thrive
    • Increased activation-induced T-cell death
    • Defective clathrin-mediated endocytosis

    Green FCHO1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency 76, MIM# 619164
    Tags
    • treatable
    • immunological