1. Mendelian
  2. Rare Disease Genes
  3. REEP6

REEP6 gene related symptoms and diseases

All the information presented here about the REEP6 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 REEP6 gene

Symptoms // Phenotype % Cases
Cataract Very Common - Between 80% and 100% cases
Hypoplasia of penis Uncommon - Between 30% and 50% cases
Obesity Uncommon - Between 30% and 50% cases
Hypogonadism Uncommon - Between 30% and 50% cases
Glaucoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with REEP6 gene alterations may also develop some of the following symptoms and phenotypes:

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

  • Photophobia
  • Conductive hearing impairment
  • Ophthalmoplegia
  • Type II diabetes mellitus
  • Anteverted nares
  • Abnormality of retinal pigmentation
  • Abnormal electroretinogram
  • Hyperinsulinemia

And 24 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to REEP6 gene

Here you will find a list of rare diseases related to the REEP6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


RETINITIS PIGMENTOSA 77; RP77

Most common symptoms of RETINITIS PIGMENTOSA 77; RP77

  • Cataract
  • Edema
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Nyctalopia


More info about RETINITIS PIGMENTOSA 77; RP77

SOURCES: OMIM

RETINITIS PIGMENTOSA

Description

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

Most common symptoms of RETINITIS PIGMENTOSA

  • Intellectual disability
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract
  • Visual impairment


More info about RETINITIS PIGMENTOSA

SOURCES: ORPHANET


Potential gene panels for REEP6 gene

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel
United States.

Autosomal Dominant Retinitis Pigmentosa 77 (RP77) via REEP6 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the REEP6 gene.

More info about this panel
United States.

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

More info about this panel
Finland.

Retinitis Pigmentosa Panel Panel

Finland.

By Blueprint Genetics Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 SAG CWC27

More info about this panel
Finland.

RETINITIS PIGMENTOSA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL RETINITIS PIGMENTOSA NGS PANEL that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

More info about this panel
Spain.

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