Activity
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5 actions
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| Mendeliome v1.2229 | P2RY8 | Zornitza Stark Marked gene: P2RY8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2229 | P2RY8 | Zornitza Stark Gene: p2ry8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2229 | P2RY8 | Zornitza Stark Classified gene: P2RY8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2229 | P2RY8 | Zornitza Stark Gene: p2ry8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2228 | P2RY8 |
Zornitza Stark gene: P2RY8 was added gene: P2RY8 was added to Mendeliome. 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 erythematosus, MONDO:0007915, P2RY8-related Review for gene: P2RY8 was set to AMBER Added comment: One de novo variant, p.Leu257Phe, absent from gnomAD v4 identified in an individual with early-onset SLE. Subsequent search for additional individuals in large cohorts identified: p. Asn97Lys, inherited from mother, present in 19 individuals in gnomADv4. p.Glu323Gly identified in 6 Chinese individuals, inheritance not determined, present in 51 individuals in gnomADv4. Functional data support the role of the gene in immune tolerance. Role in contributing to the development of SLE is plausible, though not necessarily under a monogenic model. Sources: Literature |
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