RTN2 gene related symptoms and diseases

All the information presented here about the RTN2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to RTN2 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Lower limb amyotrophy Very Common - Between 80% and 100% cases
Lower limb hyperreflexia Very Common - Between 80% and 100% cases
Ankle clonus Very Common - Between 80% and 100% cases
Progressive spastic paraplegia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with RTN2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Impaired vibration sensation in the lower limbs
  • Urinary bladder sphincter dysfunction
  • Impaired proprioception
  • Degeneration of the lateral corticospinal tracts
  • Urinary urgency
  • Hyperreflexia in upper limbs
  • Abnormality of the cerebrospinal fluid
  • Spinal cord lesion

And 25 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to RTN2 gene

Here you will find a list of rare diseases related to the RTN2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 12


Alternate names

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 12 Is also known as spg12

Description

Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.

Most common symptoms of AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 12

  • Seizures
  • Spasticity
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Babinski sign


More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 12

SOURCES: OMIM ORPHANET MESH


Potential gene panels for RTN2 gene

HSP, Supplemental Dominant Evaluation Panel

United States.

By Athena Diagnostics Inc HSP, Supplemental Dominant Evaluation that also includes the following genes: RTN2 BSCL2 NIPA1 WASHC5 HSPD1 SLC33A1

More info about this panel

HSP, Comprehensive Evaluation Panel

United States.

By Athena Diagnostics Inc HSP, Comprehensive Evaluation that also includes the following genes: RTN2 SACS SPG11 ATL1 SPAST SPG7 BSCL2 PNPLA6 NIPA1 SPART

More info about this panel

HSP, Supplemental Sporadic Evaluation Panel

United States.

By Athena Diagnostics Inc HSP, Supplemental Sporadic Evaluation that also includes the following genes: RTN2 SACS SPG11 ATL1 BSCL2 PNPLA6 NIPA1 SPART SPG21 ZFYVE26

More info about this panel

HSP, Complete Dominant Evaluation Panel

United States.

By Athena Diagnostics Inc HSP, Complete Dominant Evaluation that also includes the following genes: RTN2 ATL1 SPAST BSCL2 NIPA1 REEP1 WASHC5 HSPD1 KIF5A SLC33A1

More info about this panel

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

Hereditary Spastic Paraplegia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Spastic Paraplegia Exome Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

RTN2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the RTN2 gene.

More info about this panel

Spastic paraplegia type 12 (SPG12, sequence analysis of RTN2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the RTN2 gene.

More info about this panel

Hereditary spastic paraplegia (NGS panel for 43 genes) Panel

Portugal.

By CGC Genetics Hereditary spastic paraplegia (NGS panel for 43 genes) that also includes the following genes: RTN2 SPG11 ATL1 SPAST SPG7 TFG ERLIN2 BSCL2 PNPLA6 NIPA1

More info about this panel

Spastic paraplegia type 12 (SPG12, deletion/duplication analysis of RTN2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the RTN2 gene.

More info about this panel

Spastic paraplegia type 12 (SPG12, deletion/duplication analysis of RTN2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the RTN2 gene.

More info about this panel

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

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

Spastic Paraplegia 12 via RTN2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the RTN2 gene.

More info about this panel

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

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

Spastic paraplegia 12, autosomal dominant Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the RTN2 gene.

More info about this panel

Spastic paraplegia AD panel Panel

Germany.

By Centogene AG - the Rare Disease Company Spastic paraplegia AD panel that also includes the following genes: RTN2 ATL1 SPAST BSCL2 NIPA1 REEP1 ZFYVE27 WASHC5 HSPD1 KIF5A

More info about this panel

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

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

Hereditary Spastic Paraplegia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Hereditary Spastic Paraplegia that also includes the following genes: RTN2 SLC16A2 SPG11 ATL1 SPAST SPG7 ERLIN2 BSCL2 PNPLA6 NIPA1

More info about this panel

Invitae Hereditary Spastic Paraplegia Autosomal Dominant Panel Panel

United States.

By Invitae Invitae Hereditary Spastic Paraplegia Autosomal Dominant Panel that also includes the following genes: RTN2 ATL1 SPAST VAMP1 BSCL2 NIPA1 REEP1 WASHC5 HSPD1 KIF5A

More info about this panel

Invitae Hereditary Spastic Paraplegia Comprehensive Panel Panel

United States.

By Invitae Invitae Hereditary Spastic Paraplegia Comprehensive Panel that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1 ERLIN2

More info about this panel

Spastic Paraplegia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Spastic Paraplegia NGS Panel that also includes the following genes: RTN2 SLC16A2 SPG11 ATL1 SPAST SPG7 ACOX1 BSCL2 NIPA1 SPART

More info about this panel

RTN2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RTN2 gene.

More info about this panel

Autosomal dominant spastic paraplegia type 12 Panel

Spain.

By Bioarray

This panel specifically test the RTN2 gene.

More info about this panel

SPASTIC PARAPLEGIA, FAMILIAL (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL (AUTOSOMAL DOMINANT) that also includes the following genes: RTN2 ATL1 SPAST BSCL2 NIPA1 REEP1 ZFYVE27 WASHC5 HSPD1 KIF5A

More info about this panel

SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL that also includes the following genes: RTN2 SACS SLC16A2 SPG11 ATL1 SPAST SPG7 TFG TTR VCP

More info about this panel

Spastic paraplegia panel, autosomal dominant Panel

Canada.

By LifeLabs Genetics Spastic paraplegia panel, autosomal dominant that also includes the following genes: RTN2 ATL1 SPAST BSCL2 NIPA1 REEP1 ZFYVE27 WASHC5 HSPD1 KIF5A

More info about this panel

Familial Spastic Paraplegia Type 12 , Sequencing RTN2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the RTN2 gene.

More info about this panel

Hereditary Spastic Paraplegia: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Spastic Paraplegia: gene sequencing panel that also includes the following genes: RTN2 SLC16A2 ATL1 SPAST ERLIN2 BSCL2 NIPA1 GJC2 SPART GBA2

More info about this panel


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