Genes in panel
STRs in panel
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Primary immunodeficiency

Gene: ARHGEF1

Red List (low evidence)

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

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single family, functional data.
Created: 9 Apr 2020, 1:11 a.m. | Last Modified: 9 Apr 2020, 1:11 a.m.
Panel Version: 2.46

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 62, MIM#618459

Publications

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
  • IUIS Classification December 2019
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

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ARHGEF1 were updated from 32086639; 32048120 to 32086639; 30521495; 32048120

26 Feb 2020, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: ARHGEF1 was added gene: ARHGEF1 was added to Primary immunodeficiency. 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; 32048120 Phenotypes for gene: ARHGEF1 were set to Predominantly Antibody Deficiencies; Recurrent infections, bronchiectasis; Immunodeficiency 62, 618459; ARHGEF1 deficiency