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
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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

SOURCES: OMIM MESH

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


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

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

Immunodeficiency type 25 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CD247 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

CD247 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CD247 gene.

More info about this panel

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

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

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


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