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Newborns main panel

Gene: IL21

Amber List (moderate evidence)
IL21 (interleukin 21)
EnsemblGeneIds (GRCh38): ENSG00000138684
EnsemblGeneIds (GRCh37): ENSG00000138684
OMIM: 605384, Gene2Phenotype
IL21 is in 3 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: 24746753 - 1 family
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
  • Common variable immune deficiency 11
OMIM
605384
Clinvar variants
Variants in IL21
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Common variable immune deficiency 11 for gene: IL21

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to IL21. Added phenotypes Common variable immune deficiency 11 for gene: IL21 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to IL21. Added phenotypes Common variable immune deficiency 11 for gene: IL21 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

15 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to IL21. Added phenotypes Common variable immune deficiency 11 for gene: IL21 Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: IL21 was added gene: IL21 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: IL21 was set to BIALLELIC, autosomal or pseudoautosomal