Combined Immunodeficiency
Gene: RHOH

RHOH (ras homolog family member H)
EnsemblGeneIds (GRCh38): ENSG00000168421
EnsemblGeneIds (GRCh37): ENSG00000168421
OMIM: 602037, Gene2Phenotype
RHOH is in 2 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Now 2 cases reported.
Created: 10 Nov 2024, 4:37 a.m. | Last Modified: 10 Nov 2024, 4:37 a.m.

Panel Version: 1.86

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
epidermodysplasia verruciformis, susceptibility to, 4 MONDO:0032666

Publications

Created: 10 Nov 2024, 4:37 a.m.
Last Modified: 10 Nov 2024, 4:37 a.m.
Panel version: 1.86

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

One family reported.
Created: 11 Apr 2020, 8:34 a.m. | Last Modified: 11 Apr 2020, 8:34 a.m.

Panel Version: 0.119

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
{?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307

Publications

Created: 11 Apr 2020, 8:34 a.m.
Last Modified: 11 Apr 2020, 8:34 a.m.
Panel version: 0.119

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

{?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307

OMIM

602037

Clinvar variants

Variants in RHOH

Penetrance

None

Publications

Panels with this gene

History Filter Activity

10 Nov 2024, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: RHOH were set to 38775840; 22850876; 27574848

10 Nov 2024, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: RHOH were set to 22850876; 27574848

10 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Apr 2020, Gel status: 1