IL2RG gene related symptoms and diseases
All the information presented here about the IL2RG gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to IL2RG gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Immunodeficiency | Very Common - Between 80% and 100% cases |
| Combined immunodeficiency | Common - Between 50% and 80% cases |
| Pneumonia | Common - Between 50% and 80% cases |
| Hepatomegaly | Common - Between 50% and 80% cases |
| Skin rash | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with IL2RG gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Lymphoma
- Thickened skin
- Chronic diarrhea
- Recurrent bronchitis
- Failure to thrive
- Erythroderma
- Dry skin
- Severe combined immunodeficiency
And 79 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to IL2RG gene
Here you will find a list of rare diseases related to the IL2RG. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OMENN SYNDROME
Alternate names
OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia, reticuloendotheliosis, familial, with eosinophilia, severe combined immunodeficiency with hypereosinophilia
Description
Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).
Most common symptoms of OMENN SYNDROME
- Failure to thrive
- Anemia
- Hepatomegaly
- Fever
- Edema
More info about OMENN SYNDROME
T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO GAMMA CHAIN DEFICIENCY
Alternate names
T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO GAMMA CHAIN DEFICIENCY Is also known as immunodeficiency 6, t-b+ severe combined immunodeficiency, x-linked, imd6, xcid, t-b+ scid due to gamma chain deficiency, scidx1
Description
Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.
Most common symptoms of T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO GAMMA CHAIN DEFICIENCY
- Immunodeficiency
- Pneumonia
- Otitis media
- Sinusitis
- Combined immunodeficiency
More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO GAMMA CHAIN DEFICIENCY
SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1
Alternate names
SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1 Is also known as xscid, severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative, imd4, scidx, immunodeficiency 4, scid, x-linked
Most common symptoms of SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1
- Growth delay
- Failure to thrive
- Hepatomegaly
- Diarrhea
- Immunodeficiency
More info about SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1
SOURCES: OMIM
SÉZARY SYNDROME
Alternate names
SÉZARY SYNDROME Is also known as sÉzary lymphoma
Description
Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).
Most common symptoms of SÉZARY SYNDROME
- Neoplasm
- Abnormal facial shape
- Peripheral neuropathy
- Hepatomegaly
- Fever
More info about SÉZARY SYNDROME
Search interest in IL2RG
Potential gene panels for IL2RG gene
IL2RG Familial Mutation/Variant Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the IL2RG gene.
More info about this panel United States.
IL2RG Prenatal Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the IL2RG gene.
More info about this panel United States.
IL2RG Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the IL2RG gene.
More info about this panel United States.
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome ): Eight-gene Profile (IL2RG, JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E) (Full Gene Sequencing) Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta Severe Combined Immunodeficiency (SCID Including Omenn Syndrome ): Eight-gene Profile (IL2RG, JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E) (Full Gene Sequencing) that also includes the following genes: CD3D CD3E ADA IL2RG IL7R JAK3 RAG1 RAG2
More info about this panel Canada.
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome ): Three-gene Profile (IL2RG, ADA, IL7R) (Full Gene Sequencing) Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta Severe Combined Immunodeficiency (SCID Including Omenn Syndrome ): Three-gene Profile (IL2RG, ADA, IL7R) (Full Gene Sequencing) that also includes the following genes: ADA IL2RG IL7R
More info about this panel Canada.
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): Nine-gene Profile (IL2RG), JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E, DCLREC1C [Artemis]) (Full Gene Sequencing) Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): Nine-gene Profile (IL2RG), JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E, DCLREC1C [Artemis]) (Full Gene Sequencing) that also includes the following genes: CD3D CD3E DCLRE1C ADA IL2RG IL7R JAK3 RAG1 RAG2
More info about this panel Canada.
Severe Combined Immunodeficiency (SCID): IL2RG for XSCID (Full Gene Sequencing) Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the IL2RG gene.
More info about this panel Canada.
Severe Combined Immunodeficiency (SCID): IL2RG for XSCID (Known Mutation) Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the IL2RG gene.
More info about this panel Canada.
Severe Combined Immunodeficiency (SCID): Two-gene Profile (IL2RG, JAK3) (Full Gene Sequencing) Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta Severe Combined Immunodeficiency (SCID): Two-gene Profile (IL2RG, JAK3) (Full Gene Sequencing) that also includes the following genes: IL2RG JAK3
More info about this panel Canada.
IL2RG Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the IL2RG gene.
More info about this panel United States.
Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E DCLRE1C ADA
More info about this panel United States.
Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E ADA NHEJ1
More info about this panel United States.
IL2RG Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the IL2RG gene.
More info about this panel United States.
IL2RG Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the IL2RG gene.
More info about this panel United States.
IL2RG. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the IL2RG gene.
More info about this panel Spain.
Severe combined immunodeficiency Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficiency Seq + Del/Dup Panel that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG
More info about this panel United States.
Severe combined immunodeficency Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficency Seq Analysis that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG
More info about this panel United States.
Severe combined immunodeficiency Del/dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficiency Del/dup Panel that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG
More info about this panel United States.
Severe combined immunodeficiency, X-linked (sequence analysis of IL2RG gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the IL2RG gene.
More info about this panel Portugal.
X-linked Severe Combined Immunodeficiency via IL2RG Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the IL2RG gene.
More info about this panel United States.
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 TNFRSF1A CD27 CD70 WAS NLRP3
More info about this panel United States.
IL2RG Gene Panel
United States.
By Immunology Diagnostics Laboratory Seattle Children's Research Institute
This panel specifically test the IL2RG gene.
More info about this panel United States.
IL2RG Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the IL2RG gene.
More info about this panel Netherlands.
Severe combined immunodeficiency (SCID) panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Severe combined immunodeficiency (SCID) panel that also includes the following genes: STAT5B STIM1 TBX1 CD40 CD40LG ZAP70 CD3D CD3E CD3G CD8A
More info about this panel Netherlands.
B-positive SCID panel Panel
Germany.
By Centogene AG - the Rare Disease Company B-positive SCID panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 ORAI1
More info about this panel Germany.
Comprehensive SCID panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive SCID panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 DCLRE1C
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Combined immunodeficiency, X-linked, moderate Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the IL2RG gene.
More info about this panel Germany.
Combined immunodeficiencies Panel Panel
Germany.
By CeGaT GmbH Combined immunodeficiencies Panel that also includes the following genes: RMRP SEMA3E STAT5B STIM1 STK4 TAPBP TBX1 THBD TNFRSF4 CD40
More info about this panel Germany.
IL2RG: interleukin 2 receptor, gamma Panel
Israel.
By GGA - Galil Genetic Analysis
This panel specifically test the IL2RG gene.
More info about this panel Israel.
X-SCID, IL2RG sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the IL2RG gene.
More info about this panel United States.
IL2RG Gene Sequencing Panel
Colombia.
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the IL2RG gene.
More info about this panel Colombia.
X-linked servere combined immunodeficiency Panel
Denmark.
By Department of Clinical Immunology Odense University Hospital
This panel specifically test the IL2RG gene.
More info about this panel Denmark.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) Panel Panel
United States.
By Invitae Invitae Comprehensive Severe Combined Immunodeficiency (SCID) Panel that also includes the following genes: ZAP70 CD3D CD3E CD247 DCLRE1C ADA CORO1A NHEJ1 AK2 IL2RG
More info about this panel United States.
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Panel
United States.
By Invitae Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel that also includes the following genes: STK4 TAPBP TNFRSF4 CD27 CD40LG ZAP70 CARD11 CD3D CD3E CD3G
More info about this panel United States.
Invitae Monogenic Inflammatory Bowel Disease Panel Panel
United States.
By Invitae Invitae Monogenic Inflammatory Bowel Disease Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 STIM1 STXBP2 CD40LG WAS ZAP70 AICDA
More info about this panel United States.
Invitae Primary Immunodeficiency Panel Panel
United States.
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panel United States.
Invitae T-B+NK- Severe Combined Immunodeficiency (SCID) Panel Panel
United States.
By Invitae Invitae T-B+NK- Severe Combined Immunodeficiency (SCID) Panel that also includes the following genes: IL2RG JAK3
More info about this panel United States.
Invitae X-Linked Severe Combined Immunodeficiency (SCID) Test Panel
United States.
By Invitae
This panel specifically test the IL2RG gene.
More info about this panel United States.
Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel Panel
United States.
By Invitae Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 CD27 WAS ADA LYST UNC13D
More info about this panel United States.
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME that also includes the following genes: RIT1 SHOX BRAF SOS1 SPRY2 SRC CD2AP GAB2 CBL SHOC2
More info about this panel Spain.
Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel that also includes the following genes: STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 ORAI1 IL2RG
More info about this panel United States.
Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel that also includes the following genes: STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 DCLRE1C ADA
More info about this panel United States.
Inheritest NGS, Comprehensive Panel
United States.
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panel United States.
X-linked severe combined immunodeficiency Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the IL2RG gene.
More info about this panel United States.
IL2RG Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IL2RG gene.
More info about this panel United States.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Severe Combined Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4
More info about this panel Finland.
T-B+ severe combined immunodeficiency due to gamma chain deficiency Panel
Spain.
By Bioarray
This panel specifically test the IL2RG gene.
More info about this panel Spain.
Baby Genes Targeted Panel Panel
United States.
By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panel United States.
Severe Combined Immunodeficiency NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Severe Combined Immunodeficiency NGS and Deletion/Duplication Panel that also includes the following genes: CD3D CD3E DCLRE1C ADA IL2RG IL7R JAK3 RAG1 RAG2
More info about this panel United States.
IL2RG Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the IL2RG gene.
More info about this panel United States.
SEVERE COMBINED IMMUNODEFICIENCY (SCID): NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SEVERE COMBINED IMMUNODEFICIENCY (SCID): NGS PANEL that also includes the following genes: STAT1 STIM1 FOXN1 ZAP70 CARD11 CD3D CD3E CD247 DCLRE1C ADA
More info about this panel Spain.
SEVERE COMBINED IMMUNODEFICIENCY (SCID) T- B+ NK-, (X- LINKED) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the IL2RG gene.
More info about this panel Spain.
X-Linked Severe Combined Immune Deficiency , Sequencing IL2RG Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the IL2RG gene.
More info about this panel Spain.
Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes Panel
Spain.
By Reference Laboratory Genetics Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes that also includes the following genes: SH2D1A STXBP2 TERC TERT TGFB1 TINF2 CD40LG WAS WIPF1 CARD9
More info about this panel Spain.
Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes Panel
Spain.
By Reference Laboratory Genetics Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: STAT5B STIM1 FOXN1 ZAP70 CD3D CD3E DCLRE1C ADA NHEJ1 ORAI1
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2
More info about this panel Canada.
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panel Canada.
X-linked severe combined immunodeficiency (SCID): Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the IL2RG gene.
More info about this panel Canada.
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