Primary lymphoedemaGene: RORC
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
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.
Created: 17 Apr 2021, 7:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: rorc has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: RORC.
Phenotypes for gene: RORC were changed from Lymphoedema to Lymphoedema, MONDO:0019297
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