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COVID-19 research

Gene: ARHGEF1

Green List (high evidence)

ARHGEF1 (Rho guanine nucleotide exchange factor 1)
EnsemblGeneIds (GRCh38): ENSG00000076928
EnsemblGeneIds (GRCh37): ENSG00000076928
OMIM: 601855, Gene2Phenotype
ARHGEF1 is in 2 panels

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

IUIS gene though only one patient so far
Created: 27 Apr 2020, 11:52 a.m. | Last Modified: 27 Apr 2020, 11:52 a.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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Predominantly Antibody Deficiencies
  • Recurrent infections, bronchiectasis
  • Immunodeficiency 62, 618459
  • ARHGEF1 deficiency
OMIM
601855
Clinvar variants
Variants in ARHGEF1
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 ARHGEF1. Added phenotypes Recurrent infections, bronchiectasis; Immunodeficiency 62, 618459; ARHGEF1 deficiency; Predominantly Antibody Deficiencies for gene: ARHGEF1 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: ARHGEF1 was added gene: ARHGEF1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: ARHGEF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARHGEF1 were set to 32086639; 30521495; 32048120 Phenotypes for gene: ARHGEF1 were set to Recurrent infections, bronchiectasis; Immunodeficiency 62, 618459; ARHGEF1 deficiency; Predominantly Antibody Deficiencies