SBF2 gene related symptoms and diseases

All the information presented here about the SBF2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SBF2 gene

Symptoms // Phenotype % Cases
Hearing impairment Very Common - Between 80% and 100% cases
Congenital glaucoma Very Common - Between 80% and 100% cases
Split hand Very Common - Between 80% and 100% cases
Sensorimotor neuropathy Very Common - Between 80% and 100% cases
Foot dorsiflexor weakness Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SBF2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hammertoe
  • Steppage gait
  • Decreased motor nerve conduction velocity
  • Decreased number of peripheral myelinated nerve fibers
  • Sensory neuropathy
  • Onion bulb formation
  • Megalocornea
  • Abnormal cranial nerve morphology

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

Rare diseases associated to SBF2 gene

Here you will find a list of rare diseases related to the SBF2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2

Alternate names

CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2 Is also known as charcot-marie-tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4b2, cmt4b2, charcot-marie-tooth neuropathy, type 4b2

Description

Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Pain
  • Visual impairment


More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2

SOURCES: OMIM ORPHANET MESH


Potential gene panels for SBF2 gene

CMT Advanced Evaluation - Recessive, Demyelinating Panel

United States.

By Athena Diagnostics Inc CMT Advanced Evaluation - Recessive, Demyelinating that also includes the following genes: PRX GDAP1 FIG4 FGD4 SBF2 SH3TC2 MTMR2 NDRG1

More info about this panel
United States.

SBF2 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the SBF2 gene.

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.

CMT Advanced Evaluation - Recessive Panel

United States.

By Athena Diagnostics Inc CMT Advanced Evaluation - Recessive that also includes the following genes: PRX GDAP1 FIG4 FGD4 SBF2 SH3TC2 LMNA MTMR2 NDRG1

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.

Optic Atrophy and Early Glaucoma Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Optic Atrophy and Early Glaucoma Panel that also includes the following genes: SLC4A4 SPG7 TBK1 ACO2 BEST1 WFS1 ACVR1 OPTN ASB10 MFRP

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.

Inherited Bone Marrow Failure Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Inherited Bone Marrow Failure Sequencing Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel
United States.

Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

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.

Charcot-Marie-Tooth disease type 4B2 (CMT4B2, sequence analysis of SBF2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SBF2 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.

Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 PRX GDAP1 TRIM2 FIG4 MFN2 TRPV4 FGD4 AARS GNB4

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.

Charcot-Marie-Tooth Type 4B2 via SBF2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SBF2 gene.

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 4B2 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SBF2 gene.

More info about this panel
Germany.

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.

CMT4B2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SBF2 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.

Charcot-Marie-Tooth disease type 4B2 Panel

Italy.

By Medical Genetics Laboratory Bambino Gesù Children's Hospital

This panel specifically test the SBF2 gene.

More info about this panel
Italy.

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.

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.

Glaucoma Panel

Estonia.

By Asper Biogene Asper Biogene LLC Glaucoma that also includes the following genes: SLC4A4 BEST1 ACVR1 OPTN ASB10 CANT1 SBF2 COL18A1 CYP1B1 WDR36

More info about this panel
Estonia.

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.

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.

Glaucoma (Advance) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glaucoma (Advance) that also includes the following genes: RPS19 SLC4A4 TTR BEST1 RPGRIP1 CA4 ACVR1 OPTN ASB10 OLFM2

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.

Glaucoma NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Glaucoma NGS Panel that also includes the following genes: RPS19 SLC4A4 TTR BEST1 CA4 ACVR1 OPTN RRM2B CANT1 SBF2

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.

SBF2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SBF2 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.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the SBF2 gene.

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.

GLAUCOMA NGS ÀNEL Panel

Spain.

By Laboratorio de Genetica Clinica SL GLAUCOMA NGS ÀNEL that also includes the following genes: SLC4A4 TEK BEST1 ACVR1 OPTN ASB10 MFRP CANT1 SBF2 COL18A1

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 Type 4B2 , Sequencing SBF2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SBF2 gene.

More info about this panel
Spain.

Charcot-Marie-Tooth Disease Type 4 , Deletions-Duplications (MLPA) GDAP1,MTMR2,SBF2,PRX,SH3TC2 Genes Panel

Spain.

By Reference Laboratory Genetics Charcot-Marie-Tooth Disease Type 4 , Deletions-Duplications (MLPA) GDAP1,MTMR2,SBF2,PRX,SH3TC2 Genes that also includes the following genes: PRX GDAP1 SBF2 SH3TC2 MTMR2

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 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.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TRIM27