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| Vasculitis v0.87 | ADA2 | Zornitza Stark edited their review of gene: ADA2: Added comment: PMID 40864493 : Ten patients from seven kindreds presenting with a phenotype indicative of DADA2, in whom only a single pathogenic variant was identified. Studies involving ADA2 protein expression, secretion, and enzymatic activity indicate that p.G47A, p.G47R, p.G47V, p.R169Q, p.E328K, p.H424N, and p.Y453C exert a dominant negative effect on ADA2 enzymatic activity, dimerization, and/or secretion. New MOI and mechanism.; Changed publications: 24552284, 24552285, 33791889, 40864493; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vasculitis v0.0 | RET |
Zornitza Stark gene: RET was added gene: RET was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RET was set to Unknown |
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