Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

Gene: IL2RB

Amber List (moderate evidence)

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)

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

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

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • 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
Tags
for-review
OMIM
146710
Clinvar variants
Variants in IL2RB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene IL2RB were updated from 32086639; 32048120 to 32086639; 31040185; 32048120; 31040184

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: IL2RB were set to

28 Feb 2020, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: IL2RB were changed from to CD122 deficiency; Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune hemolytic anemia, dermatitis, enteropathy, recurrent viral (EBV, CMV) infections; Immunodeficiency 63 with lymphoproliferation and autoimmunity, 618495

28 Feb 2020, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: IL2RB was changed from to BIALLELIC, autosomal or pseudoautosomal

28 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: IL2RB was added gene: IL2RB was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: IL2RB was set to