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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: FCHO1

Green List (high evidence)
FCHO1 (FCH domain only 1)
EnsemblGeneIds (GRCh38): ENSG00000130475
EnsemblGeneIds (GRCh37): ENSG00000130475
OMIM: 613437, Gene2Phenotype
FCHO1 is in 3 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Increased activation-induced T-cell death
  • B cells: normal number
  • Combined immunodeficiency
  • Defective clathrin-mediated endocytosis
  • lymphoproliferation
  • Recurrent infections (viral, mycobacteria, bacterial, fungal)
  • Failure to thrive
  • T cells: low, poor proliferation
OMIM
613437
Clinvar variants
Variants in FCHO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: FCHO1 was added gene: FCHO1 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: FCHO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FCHO1 were set to 30822429; 32098969 Phenotypes for gene: FCHO1 were set to Increased activation-induced T-cell death; B cells: normal number; Combined immunodeficiency; Defective clathrin-mediated endocytosis; lymphoproliferation; Recurrent infections (viral, mycobacteria, bacterial, fungal); Failure to thrive; T cells: low, poor proliferation