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  3. POU6F2

POU6F2 gene related symptoms and diseases

All the information presented here about the POU6F2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to POU6F2 gene

Symptoms // Phenotype % Cases
Nephroblastoma Very Common - Between 80% and 100% cases
Overgrowth Uncommon - Between 30% and 50% cases
Hemihypertrophy Uncommon - Between 30% and 50% cases
Renal neoplasm Uncommon - Between 30% and 50% cases
Male pseudohermaphroditism Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with POU6F2 gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Neoplasm of the lung
  • Aniridia
  • Gonadal dysgenesis
  • Hematuria
  • Intellectual disability
  • Lymphadenopathy
  • Weight loss
  • Abdominal pain

And 5 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to POU6F2 gene

Here you will find a list of rare diseases related to the POU6F2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


WILMS TUMOR 5; WT5

Alternate names

WILMS TUMOR 5; WT5 Is also known as wilms tumor, susceptibility to, wtsl

Most common symptoms of WILMS TUMOR 5; WT5

  • Nephroblastoma


More info about WILMS TUMOR 5; WT5

SOURCES: ORPHANET MESH OMIM

NEPHROBLASTOMA

Alternate names

NEPHROBLASTOMA Is also known as wilms tumor, nephroblastoma, renal embryonic tumor

Description

Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.

Most common symptoms of NEPHROBLASTOMA

  • Intellectual disability
  • Neoplasm
  • Hypertension
  • Fever
  • Renal insufficiency


More info about NEPHROBLASTOMA

SOURCES: OMIM ORPHANET


Potential gene panels for POU6F2 gene

POU6F2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the POU6F2 gene.

More info about this panel
United States.

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 Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel
Canada.

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