REEP2 gene related symptoms and diseases

All the information presented here about the REEP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to REEP2 gene

Symptoms // Phenotype % Cases
Pain Very Common - Between 80% and 100% cases
Spastic gait Very Common - Between 80% and 100% cases
Impaired vibration sensation at ankles Very Common - Between 80% and 100% cases
Upper limb spasticity Very Common - Between 80% and 100% cases
Urinary bladder sphincter dysfunction Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with REEP2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Toe walking
  • Impaired vibratory sensation
  • Postural tremor
  • Muscle stiffness
  • Memory impairment
  • Spasticity
  • Paraplegia
  • Spastic paraplegia

And 7 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to REEP2 gene

Here you will find a list of rare diseases related to the REEP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72

Alternate names

AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72 Is also known as spg72

Description

Autosomal spastic paraplegia type 72 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.

Most common symptoms of AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72

  • Pain
  • Spasticity
  • Hyperreflexia
  • Tremor
  • Babinski sign


More info about AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72

SOURCES: OMIM ORPHANET


Potential gene panels for REEP2 gene

Hereditary Spastic Paraplegia Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG

More info about this panel
United States.

Spastic Paraplegia 72 via REEP2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the REEP2 gene.

More info about this panel
United States.

Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SPG11 ATL1 SPAST SPG7 CAPN1 ERLIN1 NIPA1 BICD2 ZFR

More info about this panel
United States.

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1

More info about this panel
United States.

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel
Germany.

SPG72 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the REEP2 gene.

More info about this panel
Germany.

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel
Germany.

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1

More info about this panel
Germany.

Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel Panel

Germany.

By CeGaT GmbH Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel that also includes the following genes: SLC1A4 SPG11 SPG7 TFG ERLIN2 ABHD12 CCT5 PNPLA6 GJC2 REEP2

More info about this panel
Germany.

Hereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel Panel

Germany.

By CeGaT GmbH Hereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel that also includes the following genes: RTN2 ATL1 SPAST BSCL2 ABHD12 NIPA1 REEP2 CPT1C KANK1 REEP1

More info about this panel
Germany.

REEP2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the REEP2 gene.

More info about this panel
United States.

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