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Primary immunodeficiency

Gene: RHOG

Red List (low evidence)

RHOG (ras homolog family member G)
EnsemblGeneIds (GRCh38): ENSG00000177105
EnsemblGeneIds (GRCh37): ENSG00000177105
OMIM: 179505, Gene2Phenotype
RHOG is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Rating Red as only a single case reported at present (PMID: 33513601). Relevant phenotype and some supportive functional data included.
Created: 1 Mar 2021, 12:09 p.m. | Last Modified: 1 Mar 2021, 12:09 p.m.
Panel Version: 2.402

Boaz Palterer (University of Florence)

Red List (low evidence)

One patient with HLH and impaired cytotoxic T lymphocyte and natural killer (NK) cell exocytosis functions, bearing biallelic deleterious mutations in the RhoG gene.
Experimental ablation of RHOG in a model cell line and primary CTLs confirmed that RhoG engages in a protein-protein interaction with Munc13-4, an exocytosis protein essential for cytotoxic granules fusion with the plasma membrane.
Sources: Literature
Created: 1 Feb 2021, 10:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HLH; hemophagocytic lymphohistiocytosis

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • HLH
  • hemophagocytic lymphohistiocytosis
OMIM
179505
Clinvar variants
Variants in RHOG
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

1 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: rhog has been classified as Red List (Low Evidence).

1 Feb 2021, Gel status: 0

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

Boaz Palterer (University of Florence)

gene: RHOG was added gene: RHOG was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: RHOG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RHOG were set to 33513601 Phenotypes for gene: RHOG were set to HLH; hemophagocytic lymphohistiocytosis Penetrance for gene: RHOG were set to unknown Review for gene: RHOG was set to RED