TAP2 gene related symptoms and diseases
All the information presented here about the TAP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TAP2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Diarrhea | Very Common - Between 80% and 100% cases |
| Combined immunodeficiency | Very Common - Between 80% and 100% cases |
| Bronchiolitis | Very Common - Between 80% and 100% cases |
| Nasal polyposis | Very Common - Between 80% and 100% cases |
| Chronic lung disease | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TAP2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Recurrent bronchitis
- Chronic sinusitis
- Severe combined immunodeficiency
- Emphysema
- Immunodeficiency
- Chronic otitis media
- Ectopia lentis
- Vasculitis
And 4 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TAP2 gene
Here you will find a list of rare diseases related to the TAP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 1
Alternate names
IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 1 Is also known as bls, type i, bare lymphocyte syndrome type 1, hla class i deficiency
Description
Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.
Most common symptoms of IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 1
- Diarrhea
- Immunodeficiency
- Abnormal lung morphology
- Bronchiectasis
- Skin ulcer
More info about IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 1
Search interest in TAP2
Potential gene panels for TAP2 gene
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) 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 Combined Immunodeficiency (CID) Panel Panel
United States.
By Invitae Invitae Combined Immunodeficiency (CID) Panel that also includes the following genes: STK4 TAPBP TNFRSF4 CD27 CD40LG ZAP70 CARD11 CD3G CD8A LRBA
More info about this panel United States.
TAP2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TAP2 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.
IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 1 (BARE LYMPHOCYTE SYNDROME TYPE 1) Panel
Spain.
By Laboratorio de Genetica Clinica SL IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 1 (BARE LYMPHOCYTE SYNDROME TYPE 1) that also includes the following genes: TAPBP TAP1 TAP2
More info about this panel Spain.
IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA (BARE LYMPHOCYTE SYNDROME) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA (BARE LYMPHOCYTE SYNDROME) NGS PANEL that also includes the following genes: TAPBP TAP1 TAP2 CIITA RFX5 RFXANK RFXAP
More info about this panel Spain.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
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