UBE2T gene related symptoms and diseases

All the information presented here about the UBE2T gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to UBE2T gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Pancytopenia Very Common - Between 80% and 100% cases
Acute myeloid leukemia Very Common - Between 80% and 100% cases
Myeloid leukemia Very Common - Between 80% and 100% cases
Neoplasm Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with UBE2T gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Short thumb
  • Bone marrow hypocellularity
  • Leukemia
  • Thrombocytopenia
  • Anemia
  • Not very common - Between 30% and 50% cases

  • Glucose intolerance
  • Multiple cafe-au-lait spots
  • Tracheoesophageal fistula

And 161 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to UBE2T gene

Here you will find a list of rare diseases related to the UBE2T. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FANCONI ANEMIA, COMPLEMENTATION GROUP T; FANCT

Description

Fanconi anemia is characterized by genomic instability, increased susceptibility to cancer development, and bone marrow failure associated with various developmental abnormalities, such as radial ray anomalies or short stature (summary by Hira et al., 2015).For a discussion of genetic heterogeneity of Fanconi anemia, see FANCA (OMIM ).

Most common symptoms of FANCONI ANEMIA, COMPLEMENTATION GROUP T; FANCT

  • Short stature
  • Neoplasm
  • Anemia
  • Thrombocytopenia
  • Polydactyly


More info about FANCONI ANEMIA, COMPLEMENTATION GROUP T; FANCT

SOURCES: OMIM

FANCONI ANEMIA

Alternate names

FANCONI ANEMIA Is also known as fanconi pancytopenia, fanconi anemia, fa

Description

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

Most common symptoms of FANCONI ANEMIA

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


More info about FANCONI ANEMIA

SOURCES: OMIM ORPHANET


Potential gene panels for UBE2T gene

Fanconi Anemia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Fanconi Anemia Sequencing Panel that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T FANCI PALB2 ERCC4

More info about this panel
United States.

Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel
United States.

Fanconi Anemia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Fanconi Anemia Sequencing Panel with CNV Detection that also includes the following genes: BRCA1 BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T FANCI PALB2

More info about this panel
United States.

NGS Panel for Fanconi anemia Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Fanconi anemia that also includes the following genes: BRCA1 BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T RFWD3 FANCI

More info about this panel
Spain.

UBE2T Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the UBE2T gene.

More info about this panel
United States.

FANCONI ANEMIA: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FANCONI ANEMIA: NGS PANEL that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T FANCI PALB2 ERCC4

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.

Fanconi Anemia: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Fanconi Anemia: gene sequencing panel that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T RFWD3 FANCI PALB2

More info about this panel
Canada.

Esophageal Atresia/Tracheoesophageal Fistula: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Esophageal Atresia/Tracheoesophageal Fistula: gene sequencing panel that also includes the following genes: BRCA2 SOX2 XRCC2 BRIP1 CHD7 FANCL FANCM SLX4 UBE2T RFWD3

More info about this panel
Canada.

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