Activity
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| Primary immunodeficiency or monogenic inflammatory bowel disease v5.8 | IL1R1 | Achchuthan Shanmugasundram Classified gene: IL1R1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.8 | IL1R1 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, PMID:37315560 reported the identification of monoallelic IL1R1 variant (p.Lys131Glu) in a patient with chronic recurrent multifocal osteomyelitis and some functional evidence in support of the association. Hence, this gene can be rated amber with the current evidence. |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v5.8 | IL1R1 | Achchuthan Shanmugasundram Gene: il1r1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.7 | IL1R1 | Achchuthan Shanmugasundram Phenotypes for gene: IL1R1 were changed from chronic recurrent multifocal osteomyelitis to ?Chronic recurrent multifocal osteomyelitis 3, OMIM:259680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.6 | IL1R1 | Achchuthan Shanmugasundram Publications for gene: IL1R1 were set to PMID: 37315560 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.5 | IL1R1 | Achchuthan Shanmugasundram edited their review of gene: IL1R1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.5 | IL1R1 | Achchuthan Shanmugasundram reviewed gene: IL1R1: Rating: RED; Mode of pathogenicity: None; Publications: 37315560; Phenotypes: ?Chronic recurrent multifocal osteomyelitis 3, OMIM:259680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 | IL1R1 |
Dmitrijs Rots gene: IL1R1 was added gene: IL1R1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: IL1R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IL1R1 were set to PMID: 37315560 Phenotypes for gene: IL1R1 were set to chronic recurrent multifocal osteomyelitis Penetrance for gene: IL1R1 were set to unknown Mode of pathogenicity for gene: IL1R1 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: IL1R1 was set to AMBER Added comment: PMID: 37315560 reported a patient with a de novo missense variant in IL1R1 with functional evidence. Should be amber till further cases? Sources: Literature |
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