| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Autoimmune Lymphoproliferative Syndrome v0.20 | ADA2 | Ain Roesley Marked gene: ADA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.20 | ADA2 | Ain Roesley Gene: ada2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.20 | ADA2 | Ain Roesley Classified gene: ADA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.20 | ADA2 | Ain Roesley Gene: ada2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.19 | ADA2 |
Ain Roesley gene: ADA2 was added gene: ADA2 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA2 were set to 39060684; 29271561; 30692987; 34721429 Phenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688 Review for gene: ADA2 was set to GREEN gene: ADA2 was marked as current diagnostic Added comment: PMID:39060684; 1x individual hom for Gly358Arg. 4x path in clinvar PMID:29271561; 1x individual hom for c.882-2A>G. 5-year-old female who presented with features that mimicked autoimmune lymphoproliferative syndrome (ALPS) in the absence of classic features of DADA2 PMID:34721429; 2 sibs Chet for Leu188Phe and Thr187Pro and both had complete absence of inosine, an adenosine-derived product. Leu188Phe is absent in gnomad v4 and clinvar. high conservation + 0.9 REVEL Thr187Pro 1 het 0 homs in v4 and 1x clinvar citing this paper high conservation + 0.7 REVEL PMID:30692987 ; 1x Chet Tyr456Cys and Trp399*. The missense 1x LP in clinvar by Invitae and 2 hets 0 homs in v4. high conservation + REVEL 0.7 Sources: Literature |
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