EGR2 gene related symptoms and diseases
All the information presented here about the EGR2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EGR2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Decreased motor nerve conduction velocity | Common - Between 50% and 80% cases |
| Foot dorsiflexor weakness | Common - Between 50% and 80% cases |
| Peripheral neuropathy | Common - Between 50% and 80% cases |
| Distal amyotrophy | Common - Between 50% and 80% cases |
| Distal muscle weakness | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with EGR2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Areflexia
- Decreased number of peripheral myelinated nerve fibers
- Onion bulb formation
- Scoliosis
- Sensory impairment
- Steppage gait
- Generalized hypotonia
- Upper limb muscle weakness
And 38 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to EGR2 gene
Here you will find a list of rare diseases related to the EGR2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DEJERINE-SOTTAS SYNDROME
Alternate names
DEJERINE-SOTTAS SYNDROME Is also known as hereditary motor and sensory neuropathy type iii, hmsn 3, hereditary motor and sensory neuropathy type 3, charcot-marie-tooth disease type 3, hmsn iii
Description
Dejerine-Sottas syndrome is a clinical entity that represents a severe phenotype of Charcot-Marie-Tooth disease (see this term) characterized by onset occurring in infancy, severe motor weakness, delayed motor development, extremely slow nerve conduction (< 10-12 m/s), areflexia and foot deformity. Mutations in the genes PMP22 (17p12), MPZ (1q22), EGR2 (10q21.1) and PRX (19q13.2) have been implicated.
More info about DEJERINE-SOTTAS SYNDROME
SOURCES: ORPHANET
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
Alternate names
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS Is also known as hereditary motor and sensory neuropathy type iii, dsn, hmsn3, dss, dejerine-sottas syndrome, cmt3, charcot-marie-tooth disease, type 3, dejerine-sottas neuropathy
Description
Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait. Some patients have generalized hypotonia in infancy. Other features may include pes cavus, scoliosis, and sensory ataxia. Nerve conduction velocities are severely decreased (sometimes less than 10 m/s), and sural nerve biopsy shows severe loss of myelinated fibers (summary by Baets et al., 2011).
Most common symptoms of HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
- Generalized hypotonia
- Scoliosis
- Ataxia
- Nystagmus
- Muscle weakness
More info about HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
SOURCES: OMIM
CHARCOT-MARIE-TOOTH DISEASE TYPE 1D
Alternate names
CHARCOT-MARIE-TOOTH DISEASE TYPE 1D Is also known as cmt1d
Description
Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1 (see this term), caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.
More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 1D
SOURCES: ORPHANET
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D
Alternate names
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D Is also known as hmsn id, hmsn1d, hereditary motor and sensory neuropathy 1d, charcot-marie-tooth neuropathy, type 1d
Description
For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (OMIM ).
Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D
- Peripheral neuropathy
- Distal muscle weakness
- Distal amyotrophy
- Foot dorsiflexor weakness
- Steppage gait
More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D
SOURCES: OMIM
CHARCOT-MARIE-TOOTH DISEASE TYPE 4E
Alternate names
CHARCOT-MARIE-TOOTH DISEASE TYPE 4E Is also known as charcot-marie-tooth disease, type 4e, hypomyelination, severe congenital, autosomal recessive congenital hypomyelinating neuropathy, cmt4e, charcot-marie-tooth neuropathy, type 4e
Description
Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.
Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE TYPE 4E
- Generalized hypotonia
- Scoliosis
- Muscle weakness
- Motor delay
- Peripheral neuropathy
More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4E
Search interest in EGR2
Potential gene panels for EGR2 gene
CMT Advanced Evaluation - Dominant Panel
United States.
By Athena Diagnostics Inc CMT Advanced Evaluation - Dominant that also includes the following genes: YARS LITAF MFN2 TRPV4 DNM2 HSPB8 EGR2 GARS HSPB1 MPZ
More info about this panel United States.
CMT Advanced Evaluation - Dominant, Demyelinating Panel
United States.
By Athena Diagnostics Inc CMT Advanced Evaluation - Dominant, Demyelinating that also includes the following genes: YARS LITAF DNM2 EGR2 MPZ PMP22
More info about this panel United States.
CMT Advanced Evaluation - Comprehensive Panel
United States.
By Athena Diagnostics Inc CMT Advanced Evaluation - Comprehensive that also includes the following genes: YARS PRX GDAP1 LITAF FIG4 MFN2 TRPV4 FGD4 SBF2 SH3TC2
More info about this panel United States.
CMT Advanced Evaluation - Demyelinating Panel
United States.
By Athena Diagnostics Inc CMT Advanced Evaluation - Demyelinating that also includes the following genes: YARS PRX GDAP1 LITAF FIG4 FGD4 SBF2 SH3TC2 DNM2 EGR2
More info about this panel United States.
EGR2 DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the EGR2 gene.
More info about this panel United States.
Congenital Hypomyelination Evaluation Panel
United States.
By Athena Diagnostics Inc Congenital Hypomyelination Evaluation that also includes the following genes: EGR2 MPZ
More info about this panel United States.
CMT Advanced Evaluation - Nonprevalent Panel
United States.
By Athena Diagnostics Inc CMT Advanced Evaluation - Nonprevalent that also includes the following genes: YARS PRX GDAP1 LITAF FIG4 TRPV4 FGD4 SBF2 SH3TC2 DNM2
More info about this panel United States.
CMT Advanced Evaluation - Nonprevalent Demyelinating Panel
United States.
By Athena Diagnostics Inc CMT Advanced Evaluation - Nonprevalent Demyelinating that also includes the following genes: YARS PRX GDAP1 LITAF FIG4 FGD4 SBF2 SH3TC2 DNM2 EGR2
More info about this panel United States.
Charcot-Marie-Tooth Hereditary Neuropathy Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Charcot-Marie-Tooth Hereditary Neuropathy Panel that also includes the following genes: SBF1 SLC12A6 SPG11 SURF1 TFG VCP YARS PRX BSCL2 GDAP1
More info about this panel United States.
Charcot-Marie-Tooth Syndrome Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Charcot-Marie-Tooth Syndrome that also includes the following genes: SPTLC1 YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4
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.
Charcot Marie Tooth Panel Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Charcot Marie Tooth Panel that also includes the following genes: SPTLC1 TTR PRX GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panel Argentina.
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.
Charcot-Marie-Tooth Panel
Switzerland.
By Human Genetics University Hospital Bern Charcot-Marie-Tooth that also includes the following genes: YARS PRX BSCL2 GDAP1 LITAF FIG4 FGD4 SBF2 CTDP1 SH3TC2
More info about this panel Switzerland.
Early growth response 2 (EGR2) gene sequencing test Panel
Cyprus.
By Neurogenetics Department Cyprus Institute of Neurology and Genetics
This panel specifically test the EGR2 gene.
More info about this panel Cyprus.
EGR2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the EGR2 gene.
More info about this panel Spain.
EGR2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the EGR2 gene.
More info about this panel Spain.
Charcot-Marie-Tooth disease type 1D (sequence analysis of EGR2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the EGR2 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.
Charcot-Marie-Tooth disease (NGS panel for 43 genes) Panel
Portugal.
By CGC Genetics Charcot-Marie-Tooth disease (NGS panel for 43 genes) that also includes the following genes: SBF1 YARS PRX GDAP1 TRIM2 KIF1B LITAF FIG4 MFN2 TRPV4
More info about this panel Portugal.
Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 YARS PRX GDAP1 LITAF FIG4 FGD4 GNB4 SBF2 COX6A1
More info about this panel United States.
Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: SBF1 YARS PRX GDAP1 TRIM2 LITAF FIG4 MFN2 TRPV4 FGD4
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.
Atrial fibrillation Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests Atrial fibrillation Deletion / Duplication test that also includes the following genes: BSCL2 GDAP1 FIG4 FGD4 AARS GNB4 COX6A1 DHTKD1 C12orf65 DYNC1H1
More info about this panel United States.
Atrial fibrillation Comprehensive test Panel
United States.
By Connective Tissue Gene Tests Atrial fibrillation Comprehensive test that also includes the following genes: BSCL2 GDAP1 FIG4 FGD4 AARS GNB4 COX6A1 DHTKD1 C12orf65 DYNC1H1
More info about this panel United States.
Atrial fibrillation NGS test Panel
United States.
By Connective Tissue Gene Tests Atrial fibrillation NGS test that also includes the following genes: BSCL2 GDAP1 FIG4 FGD4 AARS GNB4 COX6A1 DHTKD1 C12orf65 DYNC1H1
More info about this panel United States.
Charcot-Marie-Tooth disease Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Charcot-Marie-Tooth disease Deletion / Duplication panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4
More info about this panel United States.
Charcot-Marie-Tooth disease NGS panel Panel
United States.
By Connective Tissue Gene Tests Charcot-Marie-Tooth disease NGS panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4
More info about this panel United States.
Charcot-Marie-Tooth disease Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Charcot-Marie-Tooth disease Comprehensive panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4
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.
Charcot-Marie-Tooth Neuropathy Type 1D Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the EGR2 gene.
More info about this panel Germany.
Charcot-Marie-Tooth Neuropathy Type 4E Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the EGR2 gene.
More info about this panel Germany.
Newborn: “Floppy Infant “ Panel
Germany.
By MGZ Medical Genetics Center Newborn: “Floppy Infant “ that also includes the following genes: RYR1 BIN1 SCN4A TCAP TNNT1 TPM2 TPM3 TTN UBA1 ACTA1
More info about this panel Germany.
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel
Germany.
By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
More info about this panel Germany.
Charcot Marie Tooth Type 1 Panel Panel
United States.
By FirmaLab Charcot Marie Tooth Type 1 Panel that also includes the following genes: LITAF EGR2 MPZ NEFL PMP22
More info about this panel United States.
Charcot Marie Tooth Type 4 Panel Panel
United States.
By FirmaLab Charcot Marie Tooth Type 4 Panel that also includes the following genes: PRX GDAP1 FIG4 FGD4 SBF2 SH3TC2 EGR2 MTMR2 NDRG1
More info about this panel United States.
Charcot-Marie-Tooth Neuropathy Type 1D Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the EGR2 gene.
More info about this panel Germany.
Charcot-Marie-Tooth Neuropathy Type 4E Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the EGR2 gene.
More info about this panel Germany.
CMT1D Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the EGR2 gene.
More info about this panel Germany.
CMT4E Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the EGR2 gene.
More info about this panel Germany.
Dejerine-Sottas disease Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the EGR2 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.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
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.
Single gene testing EGR2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the EGR2 gene.
More info about this panel Germany.
EGR2 - Gene sequencing Panel
Netherlands.
By Clinical Genetics Academic Medical Center
This panel specifically test the EGR2 gene.
More info about this panel Netherlands.
Charcot-Marie-Tooth Neuropathy Type 1D (EGR2) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the EGR2 gene.
More info about this panel Germany.
Charcot-Marie-Tooth Neuropathy Type 4E (EGR2) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the EGR2 gene.
More info about this panel Germany.
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.
Charcot-Marie-Tooth 1D Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the EGR2 gene.
More info about this panel Austria.
EGR2 Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the EGR2 gene.
More info about this panel Austria.
Charcot-Marie-Tooth 1D Panel
Slovakia.
By MedGene
This panel specifically test the EGR2 gene.
More info about this panel Slovakia.
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 Charcot-Marie-Tooth Disease Comprehensive Panel Panel
United States.
By Invitae Invitae Charcot-Marie-Tooth Disease Comprehensive Panel that also includes the following genes: SPG11 TFG YARS PRX BSCL2 GDAP1 TRIM2 LITAF FIG4 MFN2
More info about this panel United States.
Invitae Charcot-Marie-Tooth Disease Autosomal Recessive Panel Panel
United States.
By Invitae Invitae Charcot-Marie-Tooth Disease Autosomal Recessive Panel that also includes the following genes: SPG11 PRX GDAP1 TRIM2 FIG4 MFN2 FGD4 SBF2 LRSAM1 MED25
More info about this panel United States.
Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel Panel
United States.
By Invitae Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel that also includes the following genes: TFG YARS BSCL2 GDAP1 LITAF MFN2 TRPV4 AARS GNB4 MORC2
More info about this panel United States.
Charcot Marie-Tooth disease: EGR2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the EGR2 gene.
More info about this panel Spain.
Charcot Marie-Tooth type 4: deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Charcot Marie-Tooth type 4: deletions-duplications analysis (MLPA) that also includes the following genes: PRX GDAP1 SBF2 SH3TC2 EGR2 MTMR2 NEFL
More info about this panel Spain.
CHARCOT- MARIE TOOTH Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CHARCOT- MARIE TOOTH that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
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.
Hereditary Neuropathies NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hereditary Neuropathies NGS Panel that also includes the following genes: SCN9A ATL1 SPTLC2 TTR YARS PRX GDAP1 KIF1B LITAF MFN2
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.
EGR2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EGR2 gene.
More info about this panel United States.
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.
Arthrogryposes Panel Panel
Finland.
By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B
More info about this panel Finland.
Charcot-Marie-Tooth type 1D Panel
Spain.
By Bioarray
This panel specifically test the EGR2 gene.
More info about this panel Spain.
Charcot-Marie-Tooth disease type 4E Panel
Spain.
By Bioarray
This panel specifically test the EGR2 gene.
More info about this panel Spain.
CHARCOT-MARIE-TOOTH DISEASE TYPE 4E / 1D Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the EGR2 gene.
More info about this panel Spain.
CHARCOT-MARIE-TOOTH DISEASE TYPE 1D Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the EGR2 gene.
More info about this panel Spain.
CHARCOT-MARIE-TOOTH DISEASE TYPE 3 (DEJERINE-SOTTAS SYNDROME) Panel
Spain.
By Laboratorio de Genetica Clinica SL CHARCOT-MARIE-TOOTH DISEASE TYPE 3 (DEJERINE-SOTTAS SYNDROME) that also includes the following genes: PRX EGR2 MPZ PMP22
More info about this panel Spain.
DEJERINE-SOTTAS SYNDROME (CHARCOT-MARIE-TOOTH TYPE 3) Panel
Spain.
By Laboratorio de Genetica Clinica SL DEJERINE-SOTTAS SYNDROME (CHARCOT-MARIE-TOOTH TYPE 3) that also includes the following genes: PRX EGR2 MPZ PMP22
More info about this panel Spain.
CHARCOT-MARIE-TOOTH : NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL CHARCOT-MARIE-TOOTH : NGS PANEL that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panel Spain.
Charcot-Marie-Tooth neuropathy demyelinating panel Panel
Canada.
By LifeLabs Genetics Charcot-Marie-Tooth neuropathy demyelinating panel that also includes the following genes: PRX LITAF FIG4 FGD4 SBF2 CTDP1 SH3TC2 EGR2 GJB1 MPZ
More info about this panel Canada.
Charcot-Marie-Tooth Disease Types 1D and 4E, Sequencing EGR2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the EGR2 gene.
More info about this panel Spain.
Hereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes Panel
Spain.
By Reference Laboratory Genetics Hereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: SLC12A6 YARS PRX GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panel Spain.
Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes Panel
Spain.
By Reference Laboratory Genetics Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
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.
Charcot-Marie-Tooth Disease Type 1 ,Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Charcot-Marie-Tooth Disease Type 1 ,Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: LITAF EGR2 MPZ NEFL PMP22
More info about this panel Spain.
Charcot-Marie-Tooth Disease Type 4 , Panel Massive Sequencing (NGS) 11 Genes Panel
Spain.
By Reference Laboratory Genetics Charcot-Marie-Tooth Disease Type 4 , Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: SURF1 PRX GDAP1 FIG4 FGD4 SBF2 SH3TC2 EGR2 HK1 MTMR2
More info about this panel Spain.
Dejerine-Sottas Disease , Panel Massive Sequencing (NGS) EGR2, MPZ, PMP22, PRX Genes Panel
Spain.
By Reference Laboratory Genetics Dejerine-Sottas Disease , Panel Massive Sequencing (NGS) EGR2, MPZ, PMP22, PRX Genes that also includes the following genes: PRX EGR2 MPZ PMP22
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NRG3 SOX9 ITGA7 NDUFV1 COL5A2 SLC45A2 GCSH