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COVID-19 research

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

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

IUIS gene
Created: 27 Apr 2020, 2:51 p.m. | Last Modified: 27 Apr 2020, 2:51 p.m.
Panel Version: 0.163

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
combined immunodeficiency

Publications

Created: 27 Apr 2020, 2:51 p.m.
Last Modified: 27 Apr 2020, 2:51 p.m.
Panel version: 0.163

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36

Publications

Created: 28 Feb 2020, 8:49 p.m.
Last Modified: 28 Feb 2020, 8:49 p.m.
Panel version: Imported from Primary immunodeficiency panel version 2.36

Details

Mode of Inheritance
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
OMIM
613437
Clinvar variants
Variants in FCHO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to FCHO1. Added phenotypes Recurrent infections, lymphoproliferation, increased activation-induced T-cell death, defective clathrin-mediated endocytosis; FCHO1 deficiency; Immunodeficiencies affecting cellular and humoral immunity for gene: FCHO1 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: FCHO1 was added gene: FCHO1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: FCHO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FCHO1 were set to 32086639; 30822429; 32048120 Phenotypes for gene: FCHO1 were set to Recurrent infections, lymphoproliferation, increased activation-induced T-cell death, defective clathrin-mediated endocytosis; FCHO1 deficiency; Immunodeficiencies affecting cellular and humoral immunity