RHOH

ras homolog family member H
OMIM: 602037, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green RHOH in COVID-19 research


Level 2: Viral research
Version 1.142

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
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
Amber RHOH in Epidermodysplasia verruciformis


Version 1.6
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Amber RHOH in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

review 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
Amber RHOH in Severe Paediatric Disorders


Version 1.184

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Spastic paraplegia 72, autosomal dominant, 615625
  • ?Spastic paraplegia 72, autosomal recessive, 615625