Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: RHOHComment 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
only one kindred reportedCreated: 29 Jun 2018, 3:18 p.m.
Phenotypes
combined immunodeficiency
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 22850876Created: 9 May 2018, 3:44 p.m.
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 ImmunodeficiencyCreated: 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 immunodeficiencyCreated: 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: ENST00000381799Created: 17 Apr 2018, 12:12 p.m.
Gene: rhoh has been classified as Amber List (Moderate Evidence).
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)
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
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.
Gene: rhoh has been classified as Amber List (Moderate Evidence).
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
IUIS Classification February 2018 was added to RHOH. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to RHOH. Panel: Primary immunodeficiency disorders
This gene has been classified as Amber List (Moderate Evidence).
Publications for RHOH were set to 22850876; 24189071
Phenotypes for RHOH were set to RhoH deficiency; Combined immunodeficiency; Epidermodysplasia verruciformis; T cell deficiency and various infectious diseases
Publications for RHOH were set to 22850876
Phenotypes for RHOH were set to RhoH deficiency; Combined immunodeficiency; Epidermodysplasia verruciformis
Expert Review Amber was added to RHOH. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to RHOH. Panel: Primary immunodeficiency disorders Phenotypes for gene RHOH were set to RhoH deficiency, Combined immunodeficiency
Phenotypes for gene RHOH were set to RhoH deficiency
RHOH was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
RHOH was created by Louise Daugherty