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  3. RORC
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Primary lymphoedema

Gene: RORC

Amber List (moderate evidence)
RORC (RAR related orphan receptor C)
EnsemblGeneIds (GRCh38): ENSG00000143365
EnsemblGeneIds (GRCh37): ENSG00000143365
OMIM: 602943, Gene2Phenotype
RORC is in 3 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been rated Amber.
Created: 5 May 2021, 3:32 p.m. | Last Modified: 5 May 2021, 3:32 p.m.
Panel Version: 2.11
Created: 5 May 2021, 3:32 p.m.
Last Modified: 5 May 2021, 3:32 p.m.
Panel version: 2.11

Zornitza Stark (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. Moderate/limited evidence for gene-disease association.
Sources: Literature
Created: 17 Apr 2021, 7:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lymphoedema

Publications

Created: 17 Apr 2021, 7:34 a.m.

Panel version: 2.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Lymphoedema, MONDO:0019297
Tags
watchlist
OMIM
602943
Clinvar variants
Variants in RORC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

5 May 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: RORC.

4 May 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: RORC were changed from Lymphoedema to Lymphoedema, MONDO:0019297

17 Apr 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: RORC was added gene: RORC was added to Primary lymphoedema. 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