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Primary 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 4 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 14 Oct 2020, 12:15 p.m. | Last Modified: 14 Oct 2020, 12:15 p.m.
Panel Version: 2.214
The following PubMed IDs were added to gene RHOH (OMIM gene MIM#602037): 22850876;24189071. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.
Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208

Publications

Sophie Hambleton (Newcastle University)

I don't know

only one kindred reported
Created: 29 Jun 2018, 3:18 p.m.

Phenotypes
combined immunodeficiency

Sarah Leigh (Genomics England Curator)

Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. Single homozygous variant identified in consanguineous French siblings (PMID 22850876)
Created: 9 May 2018, 3:58 p.m.
Comment on phenotypes: Epidermodysplasia verruciformis; T cell deficiency and various infectious diseases from PMID 22850876
Created: 9 May 2018, 3:44 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

Keep Amber until more info on gene and disease association, only one family (2 affecteds) reported in the literature, request evidences from GRID and Victorian Clinical Genetics Services.
Created: 5 Jul 2018, 11:37 a.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): RHOH .PanelApp HGNC gene symbol check: RHOH . IUIS Disease: RHOH Deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: HPV infection, lung granulomas, molluscum contagiosum, lymphoma. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency
Created: 2 Jul 2018, 10:35 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: RhoH, PanelApp HGNC gene symbol check: RHOH, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: RHOH, GRID_Gene_Symbol: RHOH, GRID_Transcript_ENS_Community submitted: ENST00000381799, GRID_Transcript_RefSeq: NM_004310.4, GRID_Transcript_ENS_used_on_Production: ENST00000381799
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • RhoH deficiency
  • T cell deficiency and various infectious diseases
  • Epidermodysplasia verruciformis
  • HPV infection, lung granulomas, molluscum contagiosum, lymphoma
  • Immunodeficiencies affecting cellular and humoral immunity
  • Combined immunodeficiency
OMIM
602037
Clinvar variants
Variants in RHOH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

13 Oct 2020, Gel status: 1

Added New Source, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Other was added to RHOH. Publications for gene RHOH were updated from 32048120; 22850876; 24189071; 32086639 to 32086639; 24189071; 22850876; 32048120 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

28 Feb 2020, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to RHOH. Added phenotypes HPV infection, lung granulomas, molluscum contagiosum, lymphoma; Immunodeficiencies affecting cellular and humoral immunity for gene: RHOH Publications for gene RHOH were updated from 22850876; 24189071 to 32048120; 22850876; 24189071; 32086639

12 Jul 2018, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

5 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

1 Jul 2018, Gel status: 2

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene RHOH were set to RhoH deficiency, Combined immunodeficiency, Epidermodysplasia verruciformis, T cell deficiency and various infectious diseases, HPV infection, lung granulomas, molluscum contagiosum, lymphoma, Immunodeficiencies affecting cellular and humoral immunity

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to RHOH. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to RHOH. Panel: Primary immunodeficiency disorders

9 May 2018, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

9 May 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for RHOH were set to 22850876; 24189071

9 May 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for RHOH were set to RhoH deficiency; Combined immunodeficiency; Epidermodysplasia verruciformis; T cell deficiency and various infectious diseases

9 May 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for RHOH were set to 22850876

9 May 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for RHOH were set to RhoH deficiency; Combined immunodeficiency; Epidermodysplasia verruciformis

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to RHOH. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to RHOH. Panel: Primary immunodeficiency disorders Phenotypes for gene RHOH were set to RhoH deficiency, Combined immunodeficiency

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene RHOH were set to RhoH deficiency

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

RHOH was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

RHOH was created by Louise Daugherty