Lymphoedema_nonsyndromic

Gene: RORC

Amber List (moderate evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two individuals reported with LoF variants as part of a large cohort. Note gene is depleted for LoF in gnomad, and bi-allelic variants have been associated with immunodeficiency.
Sources: Literature
Created: 6 Apr 2021, 9:12 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lymphoedema

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lymphoedema
OMIM
602943
Clinvar variants
Variants in RORC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rorc has been classified as Amber List (Moderate Evidence).

6 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rorc has been classified as Amber List (Moderate Evidence).

6 Apr 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RORC was added gene: RORC was added to Lymphoedema_nonsyndromic. Sources: Literature Mode of inheritance for gene: RORC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RORC were set to 32960152 Phenotypes for gene: RORC were set to Lymphoedema Review for gene: RORC was set to AMBER