COVID-19 researchGene: RHOH
only one kindred reported
Created: 29 Jun 2018, 3:18 p.m.
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.
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.
Source Expert Review Green was added to RHOH. Added phenotypes T cell deficiency and various infectious diseases; Combined immunodeficiency; HPV infection, lung granulomas, molluscum contagiosum, lymphoma; Epidermodysplasia verruciformis; Immunodeficiencies affecting cellular and humoral immunity; RhoH deficiency for gene: RHOH Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: RHOH was added gene: RHOH was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: RHOH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RHOH were set to 22850876; 32086639; 32048120; 24189071 Phenotypes for gene: RHOH were set to T cell deficiency and various infectious diseases; Combined immunodeficiency; HPV infection, lung granulomas, molluscum contagiosum, lymphoma; Epidermodysplasia verruciformis; Immunodeficiencies affecting cellular and humoral immunity; RhoH deficiency