BTNL2 gene related symptoms and diseases

All the information presented here about the BTNL2 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 BTNL2 gene

Symptoms // Phenotype % Cases
Facial palsy Very Common - Between 80% and 100% cases
Interstitial pulmonary abnormality Very Common - Between 80% and 100% cases
Seizures Uncommon - Between 30% and 50% cases
Tubulointerstitial nephritis Uncommon - Between 30% and 50% cases
Vitreous hemorrhage Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with BTNL2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Abnormality of the pleura
  • Pneumothorax
  • Anterior synechiae of the anterior chamber
  • Night sweats
  • Skin nodule
  • Bone cyst
  • Immune dysregulation
  • Macular edema

And 109 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to BTNL2 gene

Here you will find a list of rare diseases related to the BTNL2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SARCOIDOSIS


Alternate names

SARCOIDOSIS Is also known as boeck sarcoid, besnier-boeck-schaumann disease, sarcoidosis, boeck's sarcoid

Description

Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

Most common symptoms of SARCOIDOSIS

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


More info about SARCOIDOSIS

SOURCES: ORPHANET OMIM

SARCOIDOSIS, SUSCEPTIBILITY TO, 2; SS2


Most common symptoms of SARCOIDOSIS, SUSCEPTIBILITY TO, 2; SS2

  • Facial palsy
  • Interstitial pulmonary abnormality


More info about SARCOIDOSIS, SUSCEPTIBILITY TO, 2; SS2

SOURCES: OMIM


Potential gene panels for BTNL2 gene

Prostate Cancer Panel Panel

Germany.

By CeGaT GmbH Prostate Cancer Panel that also includes the following genes: RNASEL BRCA1 BRCA2 BTNL2 ELAC2 CDH1 HOXB13 CD82 AR MSR1

More info about this panel

BTNL2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BTNL2 gene.

More info about this panel

Sarcoidosis , Polymorphism (rs2076530 (G>A) BTNL2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the BTNL2 gene.

More info about this panel


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