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22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
ISCA-37433-Loss 3
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
ISCA-37446-Loss 2

Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: IL2RB

IL2RB (interleukin 2 receptor subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000100385
EnsemblGeneIds (GRCh37): ENSG00000100385
OMIM: 146710, Gene2Phenotype
IL2RB is in 2 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.

Panel Version: 2.529

Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:03 p.m. | Last Modified: 20 Oct 2020, 3:03 p.m.

Panel Version: 2.339

Created: 20 Oct 2020, 3:03 p.m.
Last Modified: 20 Oct 2020, 3:03 p.m.
Panel version: 2.529

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 4 variants reported in at least 5 unrelated families (two families with the same variant had shared ethnic heritage PMID 31040185).
Created: 7 May 2020, 1:22 p.m. | Last Modified: 7 May 2020, 1:22 p.m.

Panel Version: 2.162

Created: 7 May 2020, 1:22 p.m.
Last Modified: 7 May 2020, 1:22 p.m.
Panel version: 2.162

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Five families reported.
Created: 10 Apr 2020, 8:16 a.m. | Last Modified: 10 Apr 2020, 8:16 a.m.

Panel Version: 2.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495; Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections

Publications

Created: 10 Apr 2020, 8:16 a.m.
Last Modified: 10 Apr 2020, 8:16 a.m.
Panel version: 2.51

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.

Panel Version: 2.36

Publications

Created: 28 Feb 2020, 8:49 p.m.
Last Modified: 28 Feb 2020, 8:49 p.m.
Panel version: 2.36

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
IUIS Classification December 2019

Phenotypes

CD122 deficiency
Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune hemolytic anemia, dermatitis, enteropathy, recurrent viral (EBV, CMV) infections
Immunodeficiency 63 with lymphoproliferation and autoimmunity, 618495

OMIM

146710

Clinvar variants

Variants in IL2RB

Penetrance

None

Publications

Panels with this gene

History Filter Activity

4 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: IL2RB.

4 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to IL2RB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: il2rb has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: IL2RB.

7 May 2020, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: il2rb has been classified as Green List (High Evidence).

28 Feb 2020, Gel status: 1