Activity
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7 actions
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| Primary immunodeficiency or monogenic inflammatory bowel disease v8.40 | REXO2 | Achchuthan Shanmugasundram Classified gene: REXO2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.40 | REXO2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is one patient reported with monoallelic variant in REXO2, and functional evidence is available in support of the association. Hence, this gene should be rated amber with the current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.40 | REXO2 | Achchuthan Shanmugasundram Gene: rexo2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.39 | REXO2 | Achchuthan Shanmugasundram Phenotypes for gene: REXO2 were changed from to type 1 interferonopathy, MONDO:0700264 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.38 | REXO2 | Achchuthan Shanmugasundram Publications for gene: REXO2 were set to PMID: 39107301 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.37 | REXO2 | Achchuthan Shanmugasundram reviewed gene: REXO2: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 39107301; Phenotypes: type 1 interferonopathy, MONDO:0700264; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 | REXO2 |
Dmitrijs Rots gene: REXO2 was added gene: REXO2 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: REXO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: REXO2 were set to PMID: 39107301 Penetrance for gene: REXO2 were set to unknown Mode of pathogenicity for gene: REXO2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: REXO2 was set to AMBER Added comment: PMID: 39107301 described a de novo variant in a single case with IEI with extensive functional evidence Sources: Literature |
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