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| Disorders of immune dysregulation v1.3 | P2RY8 | Zornitza Stark Marked gene: P2RY8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.3 | P2RY8 | Zornitza Stark Gene: p2ry8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.3 | P2RY8 | Zornitza Stark Phenotypes for gene: P2RY8 were changed from systemic lupus erythematosis; vasculitis; nephritis to Systemic lupus erythematosus, MONDO:0007915, P2RY8-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.2 | P2RY8 | Zornitza Stark Classified gene: P2RY8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.2 | P2RY8 | Zornitza Stark Gene: p2ry8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.1 | P2RY8 | Zornitza Stark edited their review of gene: P2RY8: Changed phenotypes: Systemic lupus erythematosus, MONDO:0007915, P2RY8-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.1 | P2RY8 | Zornitza Stark reviewed gene: P2RY8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.0 | P2RY8 |
Natasha Brown gene: P2RY8 was added gene: P2RY8 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: P2RY8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: P2RY8 were set to 34889940 Phenotypes for gene: P2RY8 were set to systemic lupus erythematosis; vasculitis; nephritis Penetrance for gene: P2RY8 were set to unknown Review for gene: P2RY8 was set to GREEN Added comment: PMID: 34889940 Six unrelated pts, rare/ultra rare missense variants with some functional validation denovo (p.Leu257Phe) x1 N97K (c.291C>G;) x1, inheritance unknown E323G (c.968A>G), in six unrelated SLE patients, all of Chinese ethnicity (note there are several entries in Gnomad for this variant in the SE Asian community) - incomplete penetrance P2RY8 L257F and N97K variants show reduced inhibition of AKT and ERK Sources: Literature |
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