Combined Immunodeficiency

Gene: RHOH

Amber List (moderate evidence)

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

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

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

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Apr 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RHOH were changed from to {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307

11 Apr 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RHOH were set to

11 Apr 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RHOH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

11 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RHOH was added gene: RHOH was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: RHOH was set to Unknown