Autoinflammatory Disorders

Gene: IL1R1

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

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: Literature
Created: 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