Autoinflammatory Disorders
Gene: IL1R1
IL1R1 (interleukin 1 receptor type 1)
EnsemblGeneIds (GRCh38): ENSG00000115594
EnsemblGeneIds (GRCh37): ENSG00000115594
OMIM: 147810, Gene2Phenotype
IL1R1 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000115594
EnsemblGeneIds (GRCh37): ENSG00000115594
OMIM: 147810, Gene2Phenotype
IL1R1 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single individual reported with de novo missense variant in this gene and a phenotype of chronic recurrent multifocal osteomyelitis, auto inflammatory in nature. Some functional data presented.
Sources: LiteratureCreated: 4 Aug 2023, 12:20 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chronic recurrent multifocal osteomyelitis 3, MIM# 259680
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Chronic recurrent multifocal osteomyelitis 3, MIM# 259680
- OMIM
- 147810
- Clinvar variants
- Variants in IL1R1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
4 Aug 2023, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: il1r1 has been classified as Red List (Low Evidence).
4 Aug 2023, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: IL1R1 was added gene: IL1R1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: IL1R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IL1R1 were set to 37315560 Phenotypes for gene: IL1R1 were set to Chronic recurrent multifocal osteomyelitis 3, MIM# 259680 Review for gene: IL1R1 was set to RED