| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Lymphoedema_nonsyndromic v0.19 | RORC | Zornitza Stark Marked gene: RORC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lymphoedema_nonsyndromic v0.19 | RORC | Zornitza Stark Gene: rorc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lymphoedema_nonsyndromic v0.19 | RORC | Zornitza Stark Classified gene: RORC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lymphoedema_nonsyndromic v0.19 | RORC | Zornitza Stark Gene: rorc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lymphoedema_nonsyndromic v0.18 | RORC |
Zornitza Stark 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 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. Sources: Literature |
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