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  3. RORC
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Defects of intrinsic and innate immunity

Gene: RORC

Green List (high evidence)
RORC (RAR related orphan receptor C)
EnsemblGeneIds (GRCh38): ENSG00000143365
EnsemblGeneIds (GRCh37): ENSG00000143365
OMIM: 602943, Gene2Phenotype
RORC is in 6 panels

2 reviews

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Susceptibility to mycobacterial disease

Publications

Created: 27 Oct 2022, 3:35 a.m.
Last Modified: 27 Oct 2022, 3:35 a.m.
Panel version: Imported from Mendelian susceptibility to Immune Disorders panel version 0.34

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Immunodeficiency-42 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to mycobacterial and candidal infections beginning in infancy. Patients vaccinated with BCG are particularly at risk for developing disseminated mycobacterial infections. Three unrelated families reported.
Created: 15 Oct 2022, 7:53 a.m. | Last Modified: 15 Oct 2022, 7:53 a.m.
Panel Version: 0.123

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 42, MIM# 616622

Publications

Created: 15 Oct 2022, 7:53 a.m.
Last Modified: 15 Oct 2022, 7:53 a.m.
Panel version: 0.123

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 42, MIM# 616622
OMIM
602943
Clinvar variants
Variants in RORC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rorc has been classified as Green List (High Evidence).

15 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RORC were changed from to Immunodeficiency 42, MIM# 616622

15 Oct 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RORC were set to

15 Oct 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RORC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RORC was added gene: RORC was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: RORC was set to Unknown