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This Panel is marked as Internal

Newborns main panel
Gene: IL1RN

IL1RN (interleukin 1 receptor antagonist)
EnsemblGeneIds (GRCh38): ENSG00000136689
EnsemblGeneIds (GRCh37): ENSG00000136689
OMIM: 147679, Gene2Phenotype
IL1RN is in 8 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

PMID: 32819369 - 1 case and review of previous 21 casesPMID: 32170523 - 1 family. PMID: 28503715 - 1 case. PMID: 30968643 - 1 case.PMID: 22127713 - 2 casesPMID: 32259833 - 1 case
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber

Phenotypes

Interleukin 1 receptor antagonist deficiency

OMIM

Clinvar variants

Variants in IL1RN

Penetrance

None

Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to IL1RN. Added phenotypes Interleukin 1 receptor antagonist deficiency for gene: IL1RN Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to IL1RN. Added phenotypes Interleukin 1 receptor antagonist deficiency for gene: IL1RN Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to IL1RN. Added phenotypes Interleukin 1 receptor antagonist deficiency for gene: IL1RN Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to IL1RN. Added phenotypes Interleukin 1 receptor antagonist deficiency for gene: IL1RN Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: IL1RN was added gene: IL1RN was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal