RORC

RAR related orphan receptor C
OMIM: 602943, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green RORC in Mendeliome


Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 42, MIM# 616622
  • Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, MONDO:0014710

Green RORC in Defects of intrinsic and innate immunity


Level 2: Immunological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 42, MIM# 616622

Amber RORC in Lymphoedema

Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Amber
  • Expert Review Amber
  • Literature
Phenotypes
  • Lymphoedema

Green RORC in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 42, 616622 (3), Autosomal recessive

Green RORC in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 42 MIM#616622