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Primary lymphoedema v2.11 | RORC | Ivone Leong Classified gene: RORC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v2.11 | RORC | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v2.11 | RORC | Ivone Leong Gene: rorc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v2.10 | RORC | Ivone Leong Tag watchlist tag was added to gene: RORC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v2.10 | RORC | Ivone Leong Phenotypes for gene: RORC were changed from Lymphoedema to Lymphoedema, MONDO:0019297 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v2.8 | RORC |
Zornitza Stark 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 Added comment: 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 |