CHRNB1 gene related symptoms and diseases
All the information presented here about the CHRNB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CHRNB1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Muscle weakness | Very Common - Between 80% and 100% cases |
| Ptosis | Common - Between 50% and 80% cases |
| Facial palsy | Common - Between 50% and 80% cases |
| Skeletal muscle atrophy | Common - Between 50% and 80% cases |
| Ophthalmoparesis | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with CHRNB1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- High palate
- Neonatal hypotonia
- Myopathy
- Easy fatigability
Not very common - Between 30% and 50% cases
- Type 1 muscle fiber predominance
- Neck flexor weakness
- Shoulder girdle muscle weakness
- Reduced vital capacity
And 37 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CHRNB1 gene
Here you will find a list of rare diseases related to the CHRNB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS2C
Description
Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized clinically by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).
Most common symptoms of MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS2C
- Muscle weakness
- Feeding difficulties
- Respiratory insufficiency
- Myopathy
- Neonatal hypotonia
More info about MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS2C
SOURCES: OMIM
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL; CMS2A
Description
Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; cholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).
Most common symptoms of MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL; CMS2A
- Short stature
- Muscle weakness
- Ptosis
- Flexion contracture
- High palate
More info about MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL; CMS2A
SOURCES: OMIM
POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES
Most common symptoms of POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES
- Scoliosis
- Muscle weakness
- Ptosis
- High palate
- Skeletal muscle atrophy
More info about POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES
SOURCES: ORPHANET
Search interest in CHRNB1
Potential gene panels for CHRNB1 gene
Congenital Myasthenic Syndrome Advanced Sequencing Evaluation Panel
United States.
By Athena Diagnostics Inc Congenital Myasthenic Syndrome Advanced Sequencing Evaluation that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 DPAGT1 AGRN
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.
Congenital Contractures Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6
More info about this panel United States.
Comprehensive Neuromuscular Panel Panel
United States.
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 panel United States.
Neuromuscular Disorders Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2
More info about this panel United States.
Congenital Myasthenic Syndrome Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Myasthenic Syndrome Sequencing Panel that also includes the following genes: SCN4A SNAP25 SYT2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ
More info about this panel United States.
Congenital Myasthenic Syndrome Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Myasthenic Syndrome Deletion/Duplication Panel that also includes the following genes: SCN4A SNAP25 SYT2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ
More info about this panel United States.
Myasthenic syndrome, congenital (sequence analysis of CHRNB1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CHRNB1 gene.
More info about this panel Portugal.
Myasthenic syndrome, congenital (NGS panel for 17genes) Panel
Portugal.
By CGC Genetics Myasthenic syndrome, congenital (NGS panel for 17genes) that also includes the following genes: SCN4A SYT2 CHAT CHRNA1 CHRNB1 CHRND CHRNE CHRNG COLQ DOK7
More info about this panel Portugal.
Myasthenic syndrome fast channel congenital (NGS panel for 8 genes) Panel
Portugal.
By CGC Genetics Myasthenic syndrome fast channel congenital (NGS panel for 8 genes) that also includes the following genes: CHRNA1 CHRNB1 CHRND CHRNE CHRNG AGRN MUSK RAPSN
More info about this panel Portugal.
Congenital Myasthenic Syndromes via CHRNB1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CHRNB1 gene.
More info about this panel United States.
Congenital Myasthenic Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Myasthenic Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SCN4A SNAP25 STIM1 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7
More info about this panel United States.
Comprehensive Neuromuscular Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1
More info about this panel United States.
CHRNB1-Related Congenital Myasthenic Syndrome Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the CHRNB1 gene.
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.
Congenital Myasthenic Syndrome (CMS) Panel
Germany.
By MGZ Medical Genetics Center Congenital Myasthenic Syndrome (CMS) that also includes the following genes: SNAP25 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ ALG2 DOK7 ALG14
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 Disease with Ptosis / External Ophthalmoplegia Panel
Germany.
By MGZ Medical Genetics Center Muscle Disease with Ptosis / External Ophthalmoplegia that also includes the following genes: RYR1 SLC25A4 TWNK RRM2B CHAT KIF21A CHRNA1 CHRNB1 CHRND CHRNE
More info about this panel Germany.
Muscle Disease with Distal Myopathy Panel
Germany.
By MGZ Medical Genetics Center Muscle Disease with Distal Myopathy that also includes the following genes: TCAP TIA1 MYOT TTN VCP CCDC78 CAPN3 CAV3 LDB3 BICD2
More info about this panel Germany.
Newborn: Neonatal Apneas Panel
Germany.
By MGZ Medical Genetics Center Newborn: Neonatal Apneas that also includes the following genes: SCN4A SLC6A5 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ LAS1L GLRA1
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.
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel
Germany.
By MGZ Medical Genetics Center Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) that also includes the following genes: RYR1 SCN4A SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1
More info about this panel Germany.
Congenital Myasthenic Syndrome Panel Panel
United States.
By FirmaLab Congenital Myasthenic Syndrome Panel that also includes the following genes: CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 MUSK RAPSN
More info about this panel United States.
Myasthenic syndrome, congenital Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CHRNB1 gene.
More info about this panel Germany.
Congenital myasthenic syndrome panel Panel
Germany.
By Centogene AG - the Rare Disease Company Congenital myasthenic syndrome panel that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE CHRNG COLQ DOK7 AGRN
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.
Congenital Myasthenic Syndromes and Arthrogryposis Panel Panel
Germany.
By CeGaT GmbH Congenital Myasthenic Syndromes and Arthrogryposis Panel that also includes the following genes: SCN4A SNAP25 SYT2 TNNI2 TNNT3 TPM2 ADGRG6 SYNE1 FKBP10 NALCN
More info about this panel Germany.
Single gene testing CHRNB1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the CHRNB1 gene.
More info about this panel Germany.
Invitae Comprehensive Neuromuscular Disorders Panel Panel
United States.
By Invitae Invitae Comprehensive Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SMN1 SMN2 SQSTM1
More info about this panel United States.
Invitae Congenital Myasthenic Syndrome Panel Panel
United States.
By Invitae Invitae Congenital Myasthenic Syndrome Panel that also includes the following genes: CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ ALG2 DOK7 DPAGT1 AGRN
More info about this panel United States.
Congenital Myasthenic Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Congenital Myasthenic that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 AGRN GFPT1
More info about this panel Spain.
Congenital Myasthenic Syndromes: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Myasthenic Syndromes: Sequencing Panel that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ ALG2 DOK7 MUSK
More info about this panel United States.
Expanded Neuromuscular Disorders: Sequencing Panel Panel
United States.
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 panel United States.
Congenital Myasthenic Syndromes: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Myasthenic Syndromes: Deletion/Duplication Panel that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ ALG2 DOK7 MUSK
More info about this panel United States.
Expanded Neuromuscular Disorders: Deletion/Duplication Panel Panel
United States.
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 panel United States.
Congenital Myasthenic Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Congenital Myasthenic Syndrome NGS Panel that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 AGRN GFPT1
More info about this panel United States.
CHRNB1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CHRNB1 gene.
More info about this panel United States.
Congenital Myasthenic Syndromes Panel Panel
Finland.
By Blueprint Genetics Congenital Myasthenic Syndromes Panel that also includes the following genes: SCN4A STIM1 CHAT CHRNA1 CHRNB1 CHRND CHRNE CHRNG COLQ FLAD1
More info about this panel Finland.
Central Hypoventilation and Apnea Panel Panel
Finland.
By Blueprint Genetics Central Hypoventilation and Apnea Panel that also includes the following genes: SCN4A SLC6A5 ZEB2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ EDN3
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.
Comprehensive Pulmonology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7
More info about this panel Finland.
MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY Panel
Spain.
By Laboratorio de Genetica Clinica SL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY that also includes the following genes: CHRNA1 CHRNB1 CHRND CHRNE
More info about this panel Spain.
MYASTHENIC SYNDROME, SLOW-CHANNEL Panel
Spain.
By Laboratorio de Genetica Clinica SL MYASTHENIC SYNDROME, SLOW-CHANNEL that also includes the following genes: CHRNA1 CHRNB1 CHRND CHRNE
More info about this panel Spain.
MYASTHENIC SYNDROME, CONGENITAL NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL MYASTHENIC SYNDROME, CONGENITAL NGS PANEL that also includes the following genes: SCN4A SLC18A3 SYT2 SLC5A7 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1
More info about this panel Spain.
Congenital Myasthenia , Sequencing CHRNB1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CHRNB1 gene.
More info about this panel Spain.
Congenital Myasthenia , Panel Massive Sequencing (NGS) 12 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Myasthenia , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 AGRN GFPT1
More info about this panel Spain.
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
Spain.
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 panel Spain.
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes Panel
Spain.
By Reference Laboratory Genetics Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes that also includes the following genes: RYR1 SCN1A SCN1B SCN2A SCN4A SCN8A SCN9A ST3GAL3 ST3GAL5 SPTAN1
More info about this panel Spain.
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