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Autoinflammatory Disorders
Gene: IL1RN

IL1RN (interleukin 1 receptor antagonist)
EnsemblGeneIds (GRCh38): ENSG00000136689
EnsemblGeneIds (GRCh37): ENSG00000136689
OMIM: 147679, Gene2Phenotype
IL1RN is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, around 20 affected individuals reported.
Created: 16 Mar 2022, 9:23 p.m. | Last Modified: 16 Mar 2022, 9:23 p.m.

Panel Version: 0.131

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Interleukin 1 receptor antagonist deficiency, MIM# 612852

Publications

Created: 16 Mar 2022, 9:23 p.m.
Last Modified: 16 Mar 2022, 9:23 p.m.
Panel version: 0.131

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Interleukin 1 receptor antagonist deficiency, MIM# 612852

OMIM

Clinvar variants

Variants in IL1RN

Penetrance

None

Publications

Panels with this gene

History Filter Activity

16 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: il1rn has been classified as Green List (High Evidence).

16 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IL1RN were changed from to Interleukin 1 receptor antagonist deficiency, MIM# 612852

16 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IL1RN were set to

16 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IL1RN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IL1RN was added gene: IL1RN was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: IL1RN was set to Unknown