CD247 gene related symptoms and diseases
All the information presented here about the CD247 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CD247 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Diarrhea | Uncommon - Between 30% and 50% cases |
| Immunodeficiency | Uncommon - Between 30% and 50% cases |
| Recurrent pneumonia | Uncommon - Between 30% and 50% cases |
| Eosinophilia | Uncommon - Between 30% and 50% cases |
| Recurrent skin infections | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CD247 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Erythroderma
- Decrease in T cell count
- Protracted diarrhea
- Susceptibility to herpesvirus
Rare diseases associated to CD247 gene
Here you will find a list of rare diseases related to the CD247. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
IMMUNODEFICIENCY 25; IMD25
Alternate names
IMMUNODEFICIENCY 25; IMD25 Is also known as immunodeficiency due to defect in cd3-zeta
Most common symptoms of IMMUNODEFICIENCY 25; IMD25
- Diarrhea
- Immunodeficiency
- Recurrent pneumonia
- Eosinophilia
- Recurrent skin infections
More info about IMMUNODEFICIENCY 25; IMD25
T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO CD3DELTA/CD3EPSILON/CD3ZETA
Alternate names
T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO CD3DELTA/CD3EPSILON/CD3ZETA Is also known as t-b+ scid due to cd3delta/cd3epsilon/cd3zeta
More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO CD3DELTA/CD3EPSILON/CD3ZETA
SOURCES: ORPHANET
Search interest in CD247
Potential gene panels for CD247 gene
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.
Immunodeficiency type 25 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CD247 gene.
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 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.
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 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: CD3D CD3E CD247 CORO1A IL7R PTPRC
More info about this panel United States.
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.
CD247 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CD247 gene.
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.
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.
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