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  2. Common Variable Immunodeficiency
  3. ARHGEF1
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Common Variable Immunodeficiency

Gene: ARHGEF1

Amber List (moderate evidence)
ARHGEF1 (Rho guanine nucleotide exchange factor 1)
EnsemblGeneIds (GRCh38): ENSG00000076928
EnsemblGeneIds (GRCh37): ENSG00000076928
OMIM: 601855, Gene2Phenotype
ARHGEF1 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Created: 21 Jul 2020, 1:46 a.m. | Last Modified: 21 Jul 2020, 1:46 a.m.
Panel Version: 0.38
Two siblings in a single family reported with compound heterozygous loss of function variants, with supporting assays in patient cells and in vitro. A null mouse model also demonstrates immunodeficiency. On the IUIS CVID phenotype gene list for human inborn errors of immunity.
Sources: Expert list
Created: 21 Jul 2020, 1:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 62 MIM#618459; ARHGEF1 deficiency

Publications

Created: 21 Jul 2020, 1:30 a.m.

Panel version: 0.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
OMIM
601855
Clinvar variants
Variants in ARHGEF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: arhgef1 has been classified as Amber List (Moderate Evidence).

21 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: arhgef1 has been classified as Amber List (Moderate Evidence).

21 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: arhgef1 has been classified as Amber List (Moderate Evidence).

21 Jul 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ARHGEF1 was added gene: ARHGEF1 was added to Common Variable Immunodeficiency. Sources: Expert list Mode of inheritance for gene: ARHGEF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARHGEF1 were set to 32048120; 30521495; 16286020 Review for gene: ARHGEF1 was set to AMBER