Lymphoedema_nonsyndromic
Gene: RORCEnsemblGeneIds (GRCh38): ENSG00000143365
EnsemblGeneIds (GRCh37): ENSG00000143365
OMIM: 602943, Gene2Phenotype
RORC is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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: LiteratureCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rorc has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rorc has been classified as Amber List (Moderate Evidence).
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