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  3. IL1R1
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Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: IL1R1

Amber List (moderate evidence)
IL1R1 (interleukin 1 receptor type 1)
EnsemblGeneIds (GRCh38): ENSG00000115594
EnsemblGeneIds (GRCh37): ENSG00000115594
OMIM: 147810, Gene2Phenotype
IL1R1 is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

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.
Created: 1 Jul 2024, 9:15 p.m. | Last Modified: 1 Jul 2024, 9:15 p.m.
Panel Version: 5.8

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Chronic recurrent multifocal osteomyelitis 3, OMIM:259680

Publications

Created: 1 Jul 2024, 9:04 p.m.
Last Modified: 1 Jul 2024, 9:04 p.m.
Panel version: 5.5

Dmitrijs Rots (Children's Clinical University Hospital)

I don't know

PMID: 37315560 reported a patient with a de novo missense variant in IL1R1 with functional evidence. Should be amber till further cases?
Sources: Literature
Created: 12 Jun 2024, 9:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
chronic recurrent multifocal osteomyelitis

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 12 Jun 2024, 9:22 a.m.

Panel version: 5.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • ?Chronic recurrent multifocal osteomyelitis 3, OMIM:259680
OMIM
147810
Clinvar variants
Variants in IL1R1
Penetrance
unknown
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

1 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: il1r1 has been classified as Amber List (Moderate Evidence).

1 Jul 2024, Gel status: 0

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: IL1R1 were changed from chronic recurrent multifocal osteomyelitis to ?Chronic recurrent multifocal osteomyelitis 3, OMIM:259680

1 Jul 2024, Gel status: 0

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: IL1R1 were set to PMID: 37315560

12 Jun 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Dmitrijs Rots (Children's Clinical University Hospital)

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