REEP1 gene related symptoms and diseases
All the information presented here about the REEP1 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 REEP1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Spasticity | Very Common - Between 80% and 100% cases |
| Hand muscle weakness | Very Common - Between 80% and 100% cases |
| Hypertonia | Very Common - Between 80% and 100% cases |
| Pes cavus | Very Common - Between 80% and 100% cases |
| Lower limb muscle weakness | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with REEP1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hyporeflexia
- Hyperreflexia
- Distal muscle weakness
- Distal amyotrophy
- Brisk reflexes
- Areflexia
- Muscle weakness
- Babinski sign
And 38 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to REEP1 gene
Here you will find a list of rare diseases related to the REEP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 31
Alternate names
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 31 Is also known as spg31
Description
Autosomal dominant spastic paraplegia type 31 (SPG31) is a type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.
Most common symptoms of AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 31
- Spasticity
- Hyperreflexia
- Dysarthria
- Skeletal muscle atrophy
- Gait disturbance
More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 31
DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5
Alternate names
DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5 Is also known as spinal muscular atrophy, distal, with upper limb predominance, dhmn va, hmn5, hmn va, neuropathy, distal hereditary motor, type va, distal spinal muscular atrophy type 5, spinal muscular atrophy, distal, type va, dsmav, dhmn5, distal hereditary motor neuropathy ty
Most common symptoms of DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5
- Muscle weakness
- Spasticity
- Peripheral neuropathy
- Hyperreflexia
- Skeletal muscle atrophy
More info about DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB; HMN5B
Alternate names
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB; HMN5B Is also known as dhmn5b, spinal muscular atrophy, distal, type vb, hmn vb, dhmn vb, neuropathy, distal hereditary motor, type vb, dsmavb
Description
Distal hereditary motor neuronopathy type VB is an autosomal dominant neurologic disorder characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus (summary by Beetz et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN (dHMN), see HMN type I (HMN1 ).
Most common symptoms of NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB; HMN5B
- Muscle weakness
- Spasticity
- Gait disturbance
- Hypertonia
- Areflexia
More info about NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB; HMN5B
SOURCES: OMIM
Search interest in REEP1
Potential gene panels for REEP1 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
HSP, Common Dominant Evaluation Panel
United States.
By Athena Diagnostics Inc HSP, Common Dominant Evaluation that also includes the following genes: ATL1 SPAST REEP1 KIF5A
More info about this panel United States.
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 United States.
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 United States.
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 United States.
Neuromuscular Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2
More info about this panel United States.
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.
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 United States.
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 United States.
hereditary spastic paraplegia type 31 Panel
Switzerland.
By Human Genetics University Hospital Bern
This panel specifically test the REEP1 gene.
More info about this panel Switzerland.
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX
More info about this panel United States.
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX
More info about this panel United States.
Hereditary Spastic Paraplegia 31 Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the REEP1 gene.
More info about this panel United Kingdom.
Receptor expression enhancing protein 1 (REEP1) gene sequencing test Panel
Cyprus.
By Neurogenetics Department Cyprus Institute of Neurology and Genetics
This panel specifically test the REEP1 gene.
More info about this panel Cyprus.
Spastic Paraplegia 31 (sequence analysis of REEP1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the REEP1 gene.
More info about this panel Portugal.
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel
Portugal.
By CGC Genetics Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) that also includes the following genes: SBF1 SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TWNK
More info about this panel Portugal.
Hereditary spastic paraplegia AD (NGS panel for 10 genes) Panel
Portugal.
By CGC Genetics Hereditary spastic paraplegia AD (NGS panel for 10 genes) that also includes the following genes: ATL1 SPAST BSCL2 NIPA1 REEP1 ZFYVE27 WASHC5 HSPD1 KIF5A SLC33A1
More info about this panel Portugal.
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 Portugal.
Spinal muscular atrophy (NGS panel for 21 genes) Panel
Portugal.
By CGC Genetics Spinal muscular atrophy (NGS panel for 21 genes) that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 TRPV4
More info about this panel Portugal.
Hereditary spastic paraplegias (deletion/duplication analysis of REEP1 and SPG7 genes) Panel
Portugal.
By CGC Genetics Hereditary spastic paraplegias (deletion/duplication analysis of REEP1 and SPG7 genes) that also includes the following genes: SPG7 REEP1
More info about this panel Portugal.
Hereditary spastic paraplegias (deletion/duplication analysis of REEP1 and SPG7 genes) Panel
Portugal.
By CGC Genetics Hereditary spastic paraplegias (deletion/duplication analysis of REEP1 and SPG7 genes) that also includes the following genes: SPG7 REEP1
More info about this panel Portugal.
REEP1-Related Disorders via REEP1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the REEP1 gene.
More info about this panel United States.
Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SYT2 SLC5A7 BSCL2 BICD2 TRPV4 AARS LAS1L REEP1 DCTN1 FBXO38
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.
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1 USP8
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.
Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TFG TTR YARS PRX
More info about this panel United States.
Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel that also includes the following genes: SLC5A7 BSCL2 BICD2 TRPV4 DCAF8 REEP1 DCTN1 FBXO38 PLEKHG5 DYNC1H1
More info about this panel United States.
Distal hereditary motor neuropathy and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Distal hereditary motor neuropathy and related disorders NGS panel that also includes the following genes: SLC5A7 BSCL2 BICD2 TRPV4 DCAF8 REEP1 DCTN1 FBXO38 PLEKHG5 DYNC1H1
More info about this panel United States.
Distal hereditary motor neuropathy and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Distal hereditary motor neuropathy and related disorders Comprehensive panel that also includes the following genes: SLC5A7 BSCL2 BICD2 TRPV4 DCAF8 REEP1 DCTN1 FBXO38 PLEKHG5 DYNC1H1
More info about this panel United States.
Neuropathy Panel
Germany.
By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST
More info about this panel Germany.
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.
Amyotrophic Lateral Sclerosis (ALS) and Phenocopies Panel
Germany.
By MGZ Medical Genetics Center Amyotrophic Lateral Sclerosis (ALS) and Phenocopies that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP CHCHD10 BSCL2 SLC52A3
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.
Spastic paraplegia 31, autosomal dominant Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the REEP1 gene.
More info about this panel Germany.
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 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.
Spinal Muscular Atrophy Panel Panel
Germany.
By CeGaT GmbH Spinal Muscular Atrophy Panel that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 EXOSC3
More info about this panel Germany.
Nuclear encoded Mitochondriopathies Panel Panel
Germany.
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel
Germany.
By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2
More info about this panel Germany.
Spinal Muscular Atrophy (SMA) Panel Panel
Germany.
By CeGaT GmbH Spinal Muscular Atrophy (SMA) Panel that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 EXOSC3
More info about this panel Germany.
Single gene testing REEP1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the REEP1 gene.
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.
Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel
Estonia.
By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1
More info about this panel Estonia.
Charcot-Marie-Tooth Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Charcot-Marie-Tooth Disease that also includes the following genes: SBF1 SCN9A SPTLC1 SPTLC2 SURF1 TFG VCP YARS PRX SLC5A7
More info about this panel Estonia.
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 Estonia.
Spastic Paraplegia 31 Panel
Netherlands.
By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the REEP1 gene.
More info about this panel Netherlands.
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 United States.
Invitae Comprehensive Neuropathies Panel Panel
United States.
By Invitae Invitae Comprehensive Neuropathies Panel that also includes the following genes: SCN11A SCN9A DST SPG11 ATL1 SPTLC1 SPTLC2 TFG TTR UBA1
More info about this panel United States.
Invitae Hereditary Motor Neuropathy Panel Panel
United States.
By Invitae Invitae Hereditary Motor Neuropathy Panel that also includes the following genes: SMN1 SMN2 UBA1 VAPB SLC5A7 CHCHD10 BSCL2 BICD2 TRPV4 REEP1
More info about this panel United States.
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 United States.
Spastic paraplegia 31: REEP1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the REEP1 gene.
More info about this panel Spain.
SPASTIC PARAPLEGIA A.D. Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases SPASTIC PARAPLEGIA A.D. that also includes the following genes: ATL1 SPAST BSCL2 NIPA1 REEP1 ZFYVE27 WASHC5 HSPD1 KIF5A SLC33A1
More info about this panel Spain.
Hereditary Neuropathies: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panel United States.
Hereditary Neuropathies: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panel United States.
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 United States.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
Distal Hereditary Motor Neuropathy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Distal Hereditary Motor Neuropathy NGS Panel that also includes the following genes: SLC5A7 BSCL2 FIG4 TRPV4 REEP1 DCTN1 MEGF10 DNMT1 HSPB8 GAN
More info about this panel United States.
Charcot Marie Tooth Disease Extended NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Charcot Marie Tooth Disease Extended NGS Panel that also includes the following genes: SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TTR PRX WNK1 BSCL2 GDAP1
More info about this panel United States.
REEP1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the REEP1 gene.
More info about this panel United States.
Spastic Paraplegia Panel Panel
Finland.
By Blueprint Genetics Spastic Paraplegia Panel that also includes the following genes: SACS SLC16A2 SLC25A15 KDM5C BTD SPG11 ATL1 SPAST SPG7 SPR
More info about this panel Finland.
Charcot-Marie-Tooth Neuropathy Panel Panel
Finland.
By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2
More info about this panel Finland.
Amyotrophic Lateral Sclerosis Panel Panel
Finland.
By Blueprint Genetics Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SOD1 SPG11 ATL1 SPAST SQSTM1 TARDBP TUBA4A UBQLN2 VAPB VCP
More info about this panel Finland.
Spinal Muscular Atrophy Panel Panel
Finland.
By Blueprint Genetics Spinal Muscular Atrophy Panel that also includes the following genes: SCO2 SMN1 SMN2 TBCE UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2
More info about this panel Finland.
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 Spain.
ATROPHY, SPINAL MUSCULAR SMN-NEGATIVE NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ATROPHY, SPINAL MUSCULAR SMN-NEGATIVE NGS PANEL that also includes the following genes: SCO2 TBCE UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2
More info about this panel Spain.
NEURONOPATHY, DISTAL HEREDITARY NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL NEURONOPATHY, DISTAL HEREDITARY NGS PANEL that also includes the following genes: SLC5A7 BSCL2 MFN2 TRPV4 REEP1 DCTN1 FBXO38 HSPB8 GARS HINT1
More info about this panel Spain.
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 Spain.
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 Canada.
Autosomal Dominant Spastic Paraplegia Type 31 , Sequencing REEP1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the REEP1 gene.
More info about this panel Spain.
Autosomal Dominant Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Autosomal Dominant Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: ATL1 SPAST BSCL2 NIPA1 REEP1 WASHC5 HSPD1 KIF5A SLC33A1
More info about this panel Spain.
Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Panel
Spain.
By Reference Laboratory Genetics Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes that also includes the following genes: SMN1 SMN2 UBA1 VCP YARS PRX BSCL2 GDAP1 SLC52A3 KIF1B
More info about this panel Spain.
Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes that also includes the following genes: SPG11 ATL1 SPAST SPG7 BSCL2 PNPLA6 NIPA1 GJC2 SPART ZFYVE26
More info about this panel Spain.
Spinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes Panel
Spain.
By Reference Laboratory Genetics Spinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes that also includes the following genes: SCO2 SMN1 SMN2 UBA1 VAPB VRK1 SLC5A7 BSCL2 TRPV4 REEP1
More info about this panel Spain.
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 Canada.
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