BSCL2 gene related symptoms and diseases
All the information presented here about the BSCL2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to BSCL2 gene
Symptoms // Phenotype | % Cases |
---|---|
Hepatomegaly | Common - Between 50% and 80% cases |
Cirrhosis | Common - Between 50% and 80% cases |
Acanthosis nigricans | Common - Between 50% and 80% cases |
Hypertriglyceridemia | Common - Between 50% and 80% cases |
Lipodystrophy | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with BSCL2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hyperinsulinemia
- Hepatic steatosis
- Insulin resistance
Not very common - Between 30% and 50% cases
- Pancreatitis
- Skeletal muscle hypertrophy
- Hypertension
- Lipoatrophy
- Generalized lipodystrophy
And 200 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to BSCL2 gene
Here you will find a list of rare diseases related to the BSCL2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY
Alternate names
PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as familial partial lipodystrophy type 3, fpld3, pparg-related fpld, lipodystrophy, familial partial, associated with pparg mutations
Description
This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.
Most common symptoms of PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY
- Hypertension
- Hepatomegaly
- Myopathy
- Congestive heart failure
- Splenomegaly
More info about PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 17
Alternate names
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 17 Is also known as silver spastic paraplegia syndrome, silver syndrome, spastic paraplegia-amyotrophy of hands and feet, spg17, spastic paraplegia with amyotrophy of hands and feet
Most common symptoms of AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 17
- Muscle weakness
- Spasticity
- Peripheral neuropathy
- Hyperreflexia
- Skeletal muscle atrophy
More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 17
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2
Alternate names
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 Is also known as berardinelli-seip congenital lipodystrophy, type 2, brunzell syndrome, bscl2-related, lipoatrophic diabetes, congenital, seip syndrome, lipodystrophy, total, and acromegaloid gigantism, lipodystrophy, berardinelli-seip congenital, type 2, berardinelli syndrome
Description
Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).
Most common symptoms of LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2
- Intellectual disability
- Cognitive impairment
- Hypertension
- Hepatomegaly
- Cardiomyopathy
More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2
SOURCES: OMIM
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY
Alternate names
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes, generalized congenital lipodystrophy, gcl, brunzell syndrome, bscl, beradinelli-seip syndrome
Description
Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).
Most common symptoms of BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY
- Intellectual disability
- Global developmental delay
- Short stature
- Scoliosis
- Growth delay
More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY
SOURCES: ORPHANET
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
SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY
Alternate names
SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency
Description
Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.
Most common symptoms of SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY
- Seizures
- Global developmental delay
- Ataxia
- Spasticity
- Cognitive impairment
More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY
Search interest in BSCL2
Potential gene panels for BSCL2 gene
HSP, Supplemental Dominant Evaluation Panel
By Athena Diagnostics Inc HSP, Supplemental Dominant Evaluation that also includes the following genes: RTN2 BSCL2 NIPA1 WASHC5 HSPD1 SLC33A1
More info about this panelHSP, Comprehensive Evaluation Panel
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 panelHSP, Supplemental Sporadic Evaluation Panel
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 panelHSP, Complete Dominant Evaluation Panel
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 panelCharcot-Marie-Tooth Hereditary Neuropathy Panel Panel
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 panelNeuromuscular Disorders Panel Panel
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 panelHereditary Spastic Paraplegia Panel Panel
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 panelCharcot-Marie-Tooth Syndrome Panel
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 panelComprehensive Neuromuscular Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Neuromuscular Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panelCongenital Generalized Lipodystrophy Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Congenital Generalized Lipodystrophy Deletion/Duplication Panel that also includes the following genes: CAV1 BSCL2 AGPAT2 FBN1 KCNJ6 CAVIN1
More info about this panelComprehensive Lipodystrophy Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Comprehensive Lipodystrophy Deletion/Duplication Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC ADRA2A AGPAT2 FBN1 AKT2 KCNJ6
More info about this panelComprehensive Lipodystrophy Panel Panel
By Genetic Services Laboratory University of Chicago Comprehensive Lipodystrophy Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC ADRA2A AGPAT2 FBN1 AKT2 KCNJ6
More info about this panelCongenital Generalized Lipodystrophy Panel Panel
By Genetic Services Laboratory University of Chicago Congenital Generalized Lipodystrophy Panel that also includes the following genes: CAV1 BSCL2 AGPAT2 FBN1 KCNJ6 CAVIN1
More info about this panelHereditary Spastic Paraplegia Exome Panel Panel
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 panelDystonia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panelAtaxia Exome Panel Panel
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 panelCharcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel
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 panelCharcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel
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 panelCharcot-Marie-Tooth Panel
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 panelDetection of the N88S and S90L mutations in exon 3 of the BSCL2 gene Panel
By Neurogenetics Department Cyprus Institute of Neurology and Genetics
This panel specifically test the BSCL2 gene.
More info about this panelBSCL2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the BSCL2 gene.
More info about this panelBSCL2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the BSCL2 gene.
More info about this panelSpastic Paraplegia 17 (sequence analysis of BSCL2 gene) Panel
By CGC Genetics
This panel specifically test the BSCL2 gene.
More info about this panelHereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel
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 panelHereditary spastic paraplegia AD (NGS panel for 10 genes) Panel
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 panelLipodystrophy, congenital Berardinelli-Seip type 2 (sequence analysis of BSCL2 gene) Panel
By CGC Genetics
This panel specifically test the BSCL2 gene.
More info about this panelHereditary distal motor neuropathy type VA (sequence analysis of BSCL2 gene) Panel
By CGC Genetics
This panel specifically test the BSCL2 gene.
More info about this panelHereditary spastic paraplegia (NGS panel for 43 genes) Panel
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 panelSpinal muscular atrophy (NGS panel for 21 genes) Panel
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 panelLipodystrophies (NGS panel for 17 genes) Panel
By CGC Genetics Lipodystrophies (NGS panel for 17 genes) that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC AGPAT2 FBN1 AKT2 LIPE LMNA
More info about this panelLipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel
By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2
More info about this panelLipodystrophies (NGS panel for 17 genes) Panel
By CGC Genetics Lipodystrophies (NGS panel for 17 genes) that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC AGPAT2 FBN1 AKT2 LIPE LMNA
More info about this panelLipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel
By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2
More info about this panelBSCL2-Related Neurologic Disorders/Seipinopathy Panel
By Centre de Genetique Humaine Institut de Pathologie et de Genetique
This panel specifically test the BSCL2 gene.
More info about this panelBerardinelli-Seip Congenital Lipodystrophy Type 2 Panel
By Centre de Genetique Humaine Institut de Pathologie et de Genetique
This panel specifically test the BSCL2 gene.
More info about this panelCongenital Generalised Lipodystrophy Type 2 Panel
By Exeter Molecular Genetics Laboratory
This panel specifically test the BSCL2 gene.
More info about this panelSeipin-Related Disorders via BSCL2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the BSCL2 gene.
More info about this panelDistal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection Panel
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 panelComplex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel
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 panelHereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel
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 panelComprehensive Neuropathy Sequencing Panel with CNV Detection Panel
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 panelCongenital Generalized Lipodystrophy (CGL) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Congenital Generalized Lipodystrophy (CGL) Sequencing Panel with CNV Detection that also includes the following genes: CAV1 BSCL2 AGPAT2 CAVIN1
More info about this panelAtrial fibrillation Deletion / Duplication test Panel
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 panelAtrioventricular block Comprehensive test Panel
By Connective Tissue Gene Tests Atrioventricular block Comprehensive test that also includes the following genes: BSCL2 AARS COX6A1 C12orf65 GAA GLA ATP1A1 AIFM1
More info about this panelAtrioventricular block NGS test Panel
By Connective Tissue Gene Tests Atrioventricular block NGS test that also includes the following genes: BSCL2 AARS COX6A1 C12orf65 GAA GLA ATP1A1 AIFM1
More info about this panelAtrial fibrillation Comprehensive test Panel
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 panelAtrial fibrillation NGS test Panel
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 panelCharcot-Marie-Tooth disease Deletion / Duplication panel Panel
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 panelCharcot-Marie-Tooth disease NGS panel Panel
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 panelCharcot-Marie-Tooth disease Comprehensive panel Panel
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 panelDistal hereditary motor neuropathy and related disorders Deletion / Duplication panel Panel
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 panelDistal hereditary motor neuropathy and related disorders NGS panel Panel
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 panelDistal hereditary motor neuropathy and related disorders Comprehensive panel Panel
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 panelProgeroid syndromes and related disorders NGS panel Panel
By Connective Tissue Gene Tests Progeroid syndromes and related disorders NGS panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panelProgeroid syndromes and related disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Progeroid syndromes and related disorders Comprehensive panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panelProgeroid syndromes and related disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Progeroid syndromes and related disorders Deletion / Duplication panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panelHypertrophic cardiomyopathy - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Hypertrophic cardiomyopathy - different panels that also includes the following genes: RIT1 MRPL3 RRAS SLC22A5 BRAF SOS1 SOS2 SURF1 TNNI3 TNNT2
More info about this panelMental retardation - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelNeuropathy Panel
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 panelBSCL2-Related Neurologic Disorders/Seipinopathy Panel
By MGZ Medical Genetics Center
This panel specifically test the BSCL2 gene.
More info about this panelBerardinelli-Seip Congenital Lipodystrophy Type 2 Panel
By MGZ Medical Genetics Center
This panel specifically test the BSCL2 gene.
More info about this panelNeurogenetic Disorders - panels Panel
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 panelAmyotrophic Lateral Sclerosis (ALS) and Phenocopies Panel
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 panelCongenital Generalized Lipodystrophy Sequential Panel Panel
By FirmaLab Congenital Generalized Lipodystrophy Sequential Panel that also includes the following genes: BSCL2 AGPAT2
More info about this panelBSCL2-Related Neurologic Disorders/Seipinopathy Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the BSCL2 gene.
More info about this panelLipodystrophy congenital generalized type 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the BSCL2 gene.
More info about this panelAllNeuro panel Panel
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 panelSpastic paraplegia 17, autosomal dominant Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the BSCL2 gene.
More info about this panelSpastic paraplegia AD panel Panel
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 panelHereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
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 panelSpinal Muscular Atrophy Panel Panel
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 panelAtaxia and differential diagnoses Panel Panel
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panelCharcot-Marie-Tooth and Sensory Neuropathies Panel Panel
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 panelSpinal Muscular Atrophy (SMA) Panel Panel
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 panelSingle gene testing BSCL2 Panel
By CeGaT GmbH
This panel specifically test the BSCL2 gene.
More info about this panelHereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel Panel
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 panelBSCL2 - Gene sequencing Panel
By Clinical Genetics Academic Medical Center
This panel specifically test the BSCL2 gene.
More info about this panelBSCL2-Related Neurologic Disorders/Seipinopathy Panel
By GGA - Galil Genetic Analysis
This panel specifically test the BSCL2 gene.
More info about this panelCharcot-Marie-Tooth Disease Panel
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 panelHereditary Spastic Paraplegia Panel
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 panelInherited Cardiovascular Diseases and Sudden Death Panel Panel
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panelSkeletal Myopathy Panel Panel
By Health in Code Skeletal Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SLC22A5 SLC25A4 SURF1 TAZ TCAP TNNI3 MYOT
More info about this panelVentricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel
By Health in Code Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SLC22A5 BRAF SLC25A4
More info about this panelCardiomyopathies Panel Panel
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panelHypertrophic Cardiomyopathy Extended Panel Panel
By Health in Code Hypertrophic Cardiomyopathy Extended Panel that also includes the following genes: MRPL3 RYR2 SLC22A5 BRAF SLC25A4 SOS1 SURF1 TAZ TCAP KLF10
More info about this panelMixed hyperlipidemias Panel
By Health in Code Mixed hyperlipidemias that also includes the following genes: ZMPSTE24 CAV1 BSCL2 INSIG2 CIDEC AGPAT2 AKT2 INSR LEP LMNA
More info about this panelCardiovascular Diseases_General Panel Panel
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panelSkeletal myopathy Panel Panel
By Health in Code Skeletal myopathy Panel that also includes the following genes: SCO2 SDHA SGCA SGCB SGCD SLC22A5 SLC25A3 SLC25A4 SURF1 TAZ
More info about this panelDyslipidemias / Early atherosclerosis Panel
By Health in Code Dyslipidemias / Early atherosclerosis that also includes the following genes: RYR1 SAR1B BLK SLCO1B1 SLC22A8 SLC2A2 HNF1A HNF1B KLF11 WFS1
More info about this panelArrhythmia General Panel Panel
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panelHypertrophic cardiomyopathy extended panel Panel
By Health in Code Hypertrophic cardiomyopathy extended panel that also includes the following genes: MRPL3 RYR2 SCO2 SLC22A5 BRAF SLC25A3 SLC25A4 SOS1 SURF1 TAZ
More info about this panelCardiomyopathies General Panel Panel
By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD
More info about this panelInvitae Hereditary Spastic Paraplegia Autosomal Dominant Panel Panel
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 panelInvitae Comprehensive Neuropathies Panel Panel
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 panelInvitae Hereditary Motor Neuropathy Panel Panel
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 panelInvitae Charcot-Marie-Tooth Disease Comprehensive Panel Panel
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 panelInvitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel Panel
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 panelInvitae Hereditary Spastic Paraplegia Comprehensive Panel Panel
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 panelSpastic paraplegia 17: exon 3 BSCL2 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the BSCL2 gene.
More info about this panelSpastic paraplegia 17: BSCL2 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the BSCL2 gene.
More info about this panelNeuronopathy, distal hereditary motor, type V: BSCL2 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the BSCL2 gene.
More info about this panelCHARCOT- MARIE TOOTH Panel
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 panelSPASTIC PARAPLEGIA A.D. Panel
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 panelEndocrine Disorders: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Sequencing Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24
More info about this panelExpanded Neuromuscular Disorders: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Sequencing Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panelHereditary Neuropathies: Sequencing Panel Panel
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 panelEndocrine Disorders: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Deletion/Duplication Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24
More info about this panelExpanded Neuromuscular Disorders: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panelHereditary Neuropathies: Deletion/Duplication Panel Panel
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 panelLipodystrophy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Lipodystrophy NGS Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC AGPAT2 AKT2 LMNA PPARG CAVIN1
More info about this panelSpastic Paraplegia NGS Panel Panel
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 panelCongenital Generalized Lipodystrophy Type 1/2 NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Congenital Generalized Lipodystrophy Type 1/2 NGS Panel that also includes the following genes: BSCL2 AGPAT2
More info about this panelDistal Hereditary Motor Neuropathy NGS Panel Panel
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 panelCharcot Marie Tooth Disease Extended NGS Panel Panel
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 panelBSCL2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the BSCL2 gene.
More info about this panelProgeria and Progeroid Syndromes Panel Panel
By Blueprint Genetics Progeria and Progeroid Syndromes Panel that also includes the following genes: BLM WRN ZMPSTE24 BSCL2 COL3A1 GORAB AGPAT2 ERCC2 ERCC4 ERCC5
More info about this panelSpastic Paraplegia Panel Panel
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 panelCharcot-Marie-Tooth Neuropathy Panel Panel
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 panelAmyotrophic Lateral Sclerosis Panel Panel
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 panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelCongenital and Familial Lipodystrophy Panel Panel
By Blueprint Genetics Congenital and Familial Lipodystrophy Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 AGPAT2 AKT2 LIPE LMNA PLIN1 PPARG
More info about this panelSpinal Muscular Atrophy Panel Panel
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 panelBerardinelli-Seip congenital lipodystrophy Panel
By Bioarray
This panel specifically test the BSCL2 gene.
More info about this panelLIPODYSTROPHY, FAMILIAL PARTIAL AND CONGENITAL NGS PANEL Panel
By Laboratorio de Genetica Clinica SL LIPODYSTROPHY, FAMILIAL PARTIAL AND CONGENITAL NGS PANEL that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 MLIP CIDEC AGPAT2 FOS AKT2 LIPE
More info about this panelLIPODYSTROPHY, CONGENITAL GENERALIZED (BERARDINELLI-SEIP) Panel
By Laboratorio de Genetica Clinica SL LIPODYSTROPHY, CONGENITAL GENERALIZED (BERARDINELLI-SEIP) that also includes the following genes: BSCL2 AGPAT2
More info about this panelSPASTIC PARAPLEGIA, FAMILIAL (AUTOSOMAL DOMINANT) Panel
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 panelCHARCOT-MARIE-TOOTH : NGS PANEL Panel
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 panelATROPHY, SPINAL MUSCULAR SMN-NEGATIVE NGS PANEL Panel
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 panelNEURONOPATHY, DISTAL HEREDITARY NGS PANEL Panel
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 panelSPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel
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 panelSpastic paraplegia panel, autosomal dominant Panel
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 panelBerardinelli-Seip Congenital Lipodystrophy Type 2 , Sequencing BSCL2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the BSCL2 gene.
More info about this panelFamilial Spastic Paraplegia Type 17 , Sequencing BSCL2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the BSCL2 gene.
More info about this panelFamilial Spastic Paraplegia Type 17 , Sequencing Exon 3 BSCL2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the BSCL2 gene.
More info about this panelCharcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes Panel
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 panelAutosomal Dominant Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 9 Genes Panel
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 panelMotor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Panel
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 panelFamilial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes Panel
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 panelMuscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panelLipodystrophy Related Disorders , Panel Massive Sequencing (NGS) 10 Genes Panel
By Reference Laboratory Genetics Lipodystrophy Related Disorders , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: ZMPSTE24 CAV1 BSCL2 CIDEC AGPAT2 LMNA LMNB2 PLIN1 PPARG CAVIN1
More info about this panelSpinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes Panel
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 panelHereditary Spastic Paraplegia: gene sequencing panel Panel
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 panelBerardinelli-Seip Congenital Lipodystrophy: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Berardinelli-Seip Congenital Lipodystrophy: gene sequencing panel that also includes the following genes: BSCL2 AGPAT2
More info about this panelBSCL2-Related Neurologic Disorders/Seipinopathy: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the BSCL2 gene.
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