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.

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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


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

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

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

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

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

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

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

Myotonia congenita (sequence analysis of CLCN1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CLCN1 gene.

More info about this panel

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

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

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

Myotonia Congenita Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the CLCN1 gene.

More info about this panel

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

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

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

Myotonia congenita Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CLCN1 gene.

More info about this panel

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

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

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

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

Single gene testing CLCN1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the CLCN1 gene.

More info about this panel

Myotonia congenita Becker Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the CLCN1 gene.

More info about this panel

Myotonia congenita Thomson Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the CLCN1 gene.

More info about this panel

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

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

Myotonia congenita Thomson Panel

Slovakia.

By MedGene

This panel specifically test the CLCN1 gene.

More info about this panel

Myotonia congenita Becker Panel

Slovakia.

By MedGene

This panel specifically test the CLCN1 gene.

More info about this panel

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

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

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

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

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

CLCN1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CLCN1 gene.

More info about this panel

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

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

Myotonia congenita Panel

Spain.

By Bioarray

This panel specifically test the CLCN1 gene.

More info about this panel

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

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

Myotonia congenita Panel

Canada.

By LifeLabs Genetics

This panel specifically test the CLCN1 gene.

More info about this panel

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

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

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

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

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

Congenital myotonia, autosomal dominant; Thomsen disease Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the CLCN1 gene.

More info about this panel

Congenital myotonia, autosomal recessive; Becker disease Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the CLCN1 gene.

More info about this panel

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

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


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