ROBO3 gene related symptoms and diseases

All the information presented here about the ROBO3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ROBO3 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
External ophthalmoplegia Very Common - Between 80% and 100% cases
Progressive ophthalmoplegia Very Common - Between 80% and 100% cases
Facial myokymia Very Common - Between 80% and 100% cases
Saccadic smooth pursuit Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ROBO3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Myokymia
  • Hypoplasia of the pons
  • Pendular nystagmus
  • Thoracolumbar scoliosis
  • Progressive external ophthalmoplegia
  • Congenital nystagmus
  • Abnormality of eye movement
  • Scoliosis

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ROBO3 gene

Here you will find a list of rare diseases related to the ROBO3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS


Alternate names

HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS Is also known as progressive external ophthalmoplegia and scoliosis, hgpps

Description

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.

Most common symptoms of HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS

  • Seizures
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment
  • Cognitive impairment


More info about HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS

SOURCES: ORPHANET OMIM


Potential gene panels for ROBO3 gene

ROBO3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ROBO3 gene.

More info about this panel

Progressive external ophthalmoplegia - scoliosis (sequence analysis of ROBO3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ROBO3 gene.

More info about this panel

Familial Horizontal Gaze Palsy with Progressive Scoliosis Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the ROBO3 gene.

More info about this panel

Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection that also includes the following genes: ROBO3 SALL4 KIF21A CHN1 TUBB3 TUBB2B ECEL1 HOXA1 HOXB1 PHOX2A

More info about this panel

Gaze palsy, horizontal, with progressive scoliosis Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ROBO3 gene.

More info about this panel

Single gene testing ROBO3 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ROBO3 gene.

More info about this panel

ROBO3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ROBO3 gene.

More info about this panel

Neuro-Ophthalmology Panel Panel

Finland.

By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4

More info about this panel

Gaze palsy, horizontal, with progressive scoliosis Panel

Spain.

By Bioarray

This panel specifically test the ROBO3 gene.

More info about this panel

Familial Horizontal Gaze Palsy with Progressive Scoliosis , Sequencing ROBO3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ROBO3 gene.

More info about this panel

Progressive External Ophthalmoplegia , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Progressive External Ophthalmoplegia , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SLC25A4 TWNK ROBO3 RRM2B OPA1 POLG POLG2

More info about this panel


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