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Prepair 1000+

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

1 review

Michelle Torres (Victorian Clinical Genetics Services)

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.
Created: 20 Jan 2025, 4:12 a.m. | Last Modified: 20 Jan 2025, 4:12 a.m.
Panel Version: 1.1235

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 42 MIM#616622

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 42 MIM#616622
OMIM
602943
Clinvar variants
Variants in RORC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2025, 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).

20 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RORC were changed from Immunodeficiency 42, 616622 (3), Autosomal recessive to Immunodeficiency 42 MIM#616622

20 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RORC were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RORC was added gene: RORC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RORC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RORC were set to Immunodeficiency 42, 616622 (3), Autosomal recessive