CLCN1 gene related symptoms and diseases
All the information presented here about the CLCN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CLCN1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Myotonia | Very Common - Between 80% and 100% cases |
| Percussion myotonia | Common - Between 50% and 80% cases |
| Muscle weakness | Common - Between 50% and 80% cases |
| Pain | Common - Between 50% and 80% cases |
| Myotonia with warm-up phenomenon | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with CLCN1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Myalgia
- EMG: myotonic runs
- Muscle stiffness
- Skeletal muscle hypertrophy
- Lid lag on downgaze
- Handgrip myotonia
Not very common - Between 30% and 50% cases
- EMG abnormality
- Hypothyroidism
And 11 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CLCN1 gene
Here you will find a list of rare diseases related to the CLCN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
THOMSEN AND BECKER DISEASE
Alternate names
THOMSEN AND BECKER DISEASE Is also known as myotonia congenita
Description
Myotonia congenita is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres.
Most common symptoms of THOMSEN AND BECKER DISEASE
- EMG abnormality
- Myotonia
More info about THOMSEN AND BECKER DISEASE
SOURCES: ORPHANET
MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
Alternate names
MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE Is also known as becker disease, myotonia, generalized
Description
Autosomal recessive myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. Some patients show transient muscle weakness (Koch et al., 1993). Becker disease is more common and more severe than Thomsen disease.
Most common symptoms of MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
- Muscle weakness
- Pain
- Flexion contracture
- Fever
- Dysphagia
More info about MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
SOURCES: OMIM
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
Alternate names
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT Is also known as thomsen disease, thd
Description
Autosomal dominant myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction (Sun et al., 2001). Thomsen disease is less common and less severe than Becker disease.See also paramyotonia congenita (PMC ) and potassium-aggravated myotonia (OMIM ), overlapping phenotypes caused by mutations in the SCN4A gene (OMIM ).
Most common symptoms of MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
- Muscle weakness
- Pain
- Hypothyroidism
- Myalgia
- Paralysis
More info about MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
SOURCES: OMIM
Search interest in CLCN1
Potential gene panels for CLCN1 gene
CLCN1 DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the CLCN1 gene.
More info about this panel United States.
Early Onset Myotonia Evaluation Panel
United States.
By Athena Diagnostics Inc Early Onset Myotonia Evaluation that also includes the following genes: SCN4A CLCN1 DMPK
More info about this panel United States.
Myotonic Syndrome Advanced Evaluation Panel
United States.
By Athena Diagnostics Inc Myotonic Syndrome Advanced Evaluation that also includes the following genes: SCN4A CNBP CAV3 CLCN1 DMPK HSPG2 ATP2A1
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.
CLCN1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CLCN1 gene.
More info about this panel Spain.
Myotonia congenita (deletion/duplication analysis of CLCN1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CLCN1 gene.
More info about this panel Portugal.
Non-dystrophic myotonias (NGS panel for 11 genes) Panel
Portugal.
By CGC Genetics Non-dystrophic myotonias (NGS panel for 11 genes) that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 KCNJ18 HINT1 HSPG2 KCNA1 KCNE3
More info about this panel Portugal.
Myotonia congenita (sequence analysis of CLCN1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CLCN1 gene.
More info about this panel Portugal.
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.
Myotonia Congenita via CLCN1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CLCN1 gene.
More info about this panel United States.
Muscle Pain - fluctuating CK - Rhabdomyolysis Panel
Germany.
By MGZ Medical Genetics Center Muscle Pain - fluctuating CK - Rhabdomyolysis that also includes the following genes: RYR1 SCN4A TTN TTR LPIN1 CACNA1S FKRP CLCN1 CPT2 ANO5
More info about this panel Germany.
Myotonia Congenita Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the CLCN1 gene.
More info about this panel Germany.
Myotonia Panel
Germany.
By MGZ Medical Genetics Center Myotonia that also includes the following genes: SCN4A ACTA1 CAV3 CLCN1 GAA HINT1 HSPG2 CAVIN1
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.
Myotonia congenita Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CLCN1 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.
Non-dystrophic myotonia congenita panel Panel
Germany.
By Centogene AG - the Rare Disease Company Non-dystrophic myotonia congenita panel that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 HINT1 HSPG2 KCNA1 KCNE3 ATP2A1
More info about this panel Germany.
Myotonia Panel Panel
Germany.
By CeGaT GmbH Myotonia Panel that also includes the following genes: SCN4A CAV3 CLCN1 HINT1 ATP2A1
More info about this panel Germany.
Dystonia All Panel Panel
Germany.
By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2
More info about this panel Germany.
Single gene testing CLCN1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the CLCN1 gene.
More info about this panel Germany.
Myotonia congenita Becker Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the CLCN1 gene.
More info about this panel Austria.
Myotonia congenita Thomson Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the CLCN1 gene.
More info about this panel Austria.
CLCN1 Gene Sequencing Panel
Colombia.
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the CLCN1 gene.
More info about this panel Colombia.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Myotonia congenita Thomson Panel
Slovakia.
By MedGene
This panel specifically test the CLCN1 gene.
More info about this panel Slovakia.
Myotonia congenita Becker Panel
Slovakia.
By MedGene
This panel specifically test the CLCN1 gene.
More info about this panel Slovakia.
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 Myotonia and Paramyotonia Congenita Panel Panel
United States.
By Invitae Invitae Myotonia and Paramyotonia Congenita Panel that also includes the following genes: SCN4A CLCN1
More info about this panel United States.
Myotonia congenita: CLCN1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CLCN1 gene.
More info about this panel Spain.
Non-dystrophic myotonias Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Non-dystrophic myotonias that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 KCNJ18 HINT1 HSPG2 KCNA1 KCNE3
More info about this panel Spain.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
CLCN1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CLCN1 gene.
More info about this panel United States.
Periodic Paralysis Panel Panel
Finland.
By Blueprint Genetics Periodic Paralysis Panel that also includes the following genes: SCN4A CACNA1S CLCN1 KCNJ2
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
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 panel Finland.
Myotonia congenita Panel
Spain.
By Bioarray
This panel specifically test the CLCN1 gene.
More info about this panel Spain.
MYOTONIA CONGENITA (THOMSEN AND BECKER DISEASE) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the CLCN1 gene.
More info about this panel Spain.
MYOTONIA CONGENITA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL MYOTONIA CONGENITA NGS PANEL that also includes the following genes: SCN4A CACNA1S CAV3 CLCN1 HINT1 HSPG2 KCNA1 KCNE3 ATP2A1
More info about this panel Spain.
Myotonia congenita Panel
Canada.
By LifeLabs Genetics
This panel specifically test the CLCN1 gene.
More info about this panel Canada.
Thomsen and Becker Myotonia , Sequencing CLCN1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CLCN1 gene.
More info about this panel Spain.
Thomsen and Becker Myotonia , Deletions-Duplications (MLPA) CLCN1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CLCN1 gene.
More info about this panel Spain.
Non-Dystrophic Myotonias , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Non-Dystrophic Myotonias , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 HSPG2 KCNA1 KCNE3 ATP2A1
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.
Congenital myotonia, autosomal dominant; Thomsen disease Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the CLCN1 gene.
More info about this panel Germany.
Congenital myotonia, autosomal recessive; Becker disease Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the CLCN1 gene.
More info about this panel Germany.
Myotonia Congenita: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the CLCN1 gene.
More info about this panel Canada.
Myotonia Congenita: gene deletion/duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the CLCN1 gene.
More info about this panel Canada.
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