RORC

RAR related orphan receptor C
OMIM: 602943, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green RORC in COVID-19 research


Level 2: Viral research
Version 1.80

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • North West GLH
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • Immunodeficiency 42 616622
  • Susceptibility to mycobacteria and candida
  • Defects in Intrinsic and Innate Immunity
  • Susceptibility to candidasis & Mycobacterial infection

Green RORC in Primary immunodeficiency


Version 2.478
Latest signed off version: v2.1 (24 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • Immunodeficiency 42 616622
  • Susceptibility to candidasis & Mycobacterial infection
  • Susceptibility to mycobacteria and candida
  • Defects in Intrinsic and Innate Immunity

Amber RORC in Primary lymphoedema

Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 2.18
Latest signed off version: v2.2 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lymphoedema, MONDO:0019297
Tags
  • watchlist

Green RORC in Severe Paediatric Disorders


Version 1.84

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 42, 616622