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TSEN15 gene related symptoms and diseases

All the information presented here about the TSEN15 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to TSEN15 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Visual impairment Very Common - Between 80% and 100% cases
Progressive microcephaly Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Strabismus Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TSEN15 gene alterations may also develop some of the following symptoms and phenotypes:

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

  • Muscular hypotonia of the trunk
  • Cerebral cortical atrophy
  • Babinski sign
  • Absent speech
  • Hypertonia
  • Hyperreflexia
  • Motor delay
  • Spasticity

And 11 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TSEN15 gene

Here you will find a list of rare diseases related to the TSEN15. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PONTOCEREBELLAR HYPOPLASIA TYPE 2

Alternate names

PONTOCEREBELLAR HYPOPLASIA TYPE 2 Is also known as pch2

Description

Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.

Most common symptoms of PONTOCEREBELLAR HYPOPLASIA TYPE 2

  • Seizures
  • Microcephaly
  • Visual impairment
  • Dystonia
  • Cerebellar hypoplasia


More info about PONTOCEREBELLAR HYPOPLASIA TYPE 2

SOURCES: OMIM ORPHANET

PONTOCEREBELLAR HYPOPLASIA, TYPE 2F; PCH2F

Description

Pontocerebellar hypoplasia type 2F is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly and variable neurologic signs and symptoms, including cognitive and motor delay, poor or absent speech, seizures, and spasticity (summary by Breuss et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

Most common symptoms of PONTOCEREBELLAR HYPOPLASIA, TYPE 2F; PCH2F

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2F; PCH2F

SOURCES: OMIM


Potential gene panels for TSEN15 gene

Pontocerebellar Hypoplasia via TSEN15 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the TSEN15 gene.

More info about this panel
United States.

Pontocerebellar Hypoplasia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Pontocerebellar Hypoplasia Sequencing Panel with CNV Detection that also includes the following genes: VRK1 TSEN34 TSEN15 CLP1 EXOSC3 RARS2 VPS53 TSEN54 TSEN2 SEPSECS

More info about this panel
United States.

TSEN15 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TSEN15 gene.

More info about this panel
United States.

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