CHAT gene related symptoms and diseases
All the information presented here about the CHAT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CHAT gene
Symptoms // Phenotype | % Cases |
---|---|
Diplopia | Very Common - Between 80% and 100% cases |
Ophthalmoplegia | Very Common - Between 80% and 100% cases |
Fatigable weakness | Very Common - Between 80% and 100% cases |
Generalized muscle weakness | Very Common - Between 80% and 100% cases |
Proximal muscle weakness | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CHAT gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Easy fatigability
- Weak cry
- Polyhydramnios
- Cyanosis
- Bulbar palsy
- Seizures
- Dysphagia
- Feeding difficulties
And 97 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CHAT gene
Here you will find a list of rare diseases related to the CHAT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES
Description
Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke
Most common symptoms of PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES
- Intellectual disability
- Seizures
- Ataxia
- Nystagmus
- Sensorineural hearing impairment
More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES
SOURCES: ORPHANET
MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6
Alternate names
MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea, congenital myasthenic syndrome type ia2, formerly, cms ia2, formerly, cms1a2, formerly, cmsea, fimg2, formerly, myasthenia, familial infantile, formerly, myasthenia gravis, familial in
Description
Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).
Most common symptoms of MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6
- Seizures
- Generalized hypotonia
- Hearing impairment
- Failure to thrive
- Strabismus
More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6
Search interest in CHAT
Potential gene panels for CHAT gene
MitoMet®Plus aCGH Analysis Panel
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By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel![](/img/flags/United-states.png)
GeneAware Complete Panel Version 2 (Female) Panel
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By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel![](/img/flags/United-states.png)
GeneAware Complete Panel Version 2 (Male) Panel
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By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel![](/img/flags/United-states.png)
Congenital Myasthenic Syndrome Advanced Sequencing Evaluation Panel
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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![](/img/flags/United-states.png)
Neuromuscular Disorders Panel Panel
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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![](/img/flags/United-states.png)
Congenital Contractures Panel Panel
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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![](/img/flags/United-states.png)
Comprehensive Neuromuscular Panel Panel
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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![](/img/flags/United-states.png)
Neuromuscular Disorders Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Congenital Myasthenic Syndrome Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Congenital Myasthenic Syndrome Deletion/Duplication Panel Panel
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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![](/img/flags/United-states.png)
CHAT. Complete sequencing Panel
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By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CHAT gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
CHRNA1, CHAT, CHRNE, RAPSN, DOK7, COLQ. NextGeneDx.Complete sequencing by NGS Panel
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By Instituto de Medicina Genomica Instituto de Medicina Genomica CHRNA1, CHAT, CHRNE, RAPSN, DOK7, COLQ. NextGeneDx.Complete sequencing by NGS that also includes the following genes: CHAT CHRNA1 CHRNE COLQ DOK7 RAPSN
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Myasthenic syndrome, congenital (NGS panel for 17genes) Panel
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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![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Myasthenic syndrome, congenital (sequence analysis of CHAT gene) Panel
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By CGC Genetics
This panel specifically test the CHAT gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Congenital Myasthenic Syndrome with Episodic Apnea via CHAT Gene Sequencing with CNV Detection Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the CHAT gene.
More info about this panel![](/img/flags/United-states.png)
Congenital Myasthenic Syndrome Sequencing Panel with CNV Detection Panel
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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![](/img/flags/United-states.png)
Comprehensive Neuromuscular Sequencing Panel Panel
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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![](/img/flags/United-states.png)
CHAT-Related Congenital Myasthenic Syndrome Panel
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By MGZ Medical Genetics Center
This panel specifically test the CHAT gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Neurogenetic Disorders - panels Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Congenital Myasthenic Syndrome (CMS) Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Newborn: “Floppy Infant “ Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Muscle Disease with Ptosis / External Ophthalmoplegia Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Newborn: Neonatal Apneas Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Congenital Myasthenic Syndrome Panel Panel
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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![](/img/flags/United-states.png)
Myasthenic syndrome, congenital Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Centogene AG - the Rare Disease Company
This panel specifically test the CHAT gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Congenital myasthenic syndrome panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
AllNeuro panel Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Congenital Myasthenic Syndromes and Arthrogryposis Panel Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Myasthenic syndrome, asso. with episodic apnea Panel
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By Praxis fuer Humangenetik Wien
This panel specifically test the CHAT gene.
More info about this panel![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
Myasthenic syndrome, asso. with episodic apnea Panel
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By MedGene
This panel specifically test the CHAT gene.
More info about this panel![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
Invitae Comprehensive Neuromuscular Disorders Panel Panel
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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![](/img/flags/United-states.png)
Invitae Congenital Myasthenic Syndrome Panel Panel
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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![](/img/flags/United-states.png)
Myasthenic, Congenital: CHRNA1 (G153S), CHAT (I305T), RAPSN (N88K) and CHRNE (1267delG, 1293insG) genes mutations analysis Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Myasthenic, Congenital: CHRNA1 (G153S), CHAT (I305T), RAPSN (N88K) and CHRNE (1267delG, 1293insG) genes mutations analysis that also includes the following genes: CHAT CHRNA1 CHRNE RAPSN
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Myasthenic, Congenital:CHAT gene sequence analysis Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CHAT gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Congenital Myasthenic Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Congenital Myasthenic Syndromes: Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Expanded Neuromuscular Disorders: Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Congenital Myasthenic Syndromes: Deletion/Duplication Panel Panel
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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![](/img/flags/United-states.png)
Expanded Neuromuscular Disorders: Deletion/Duplication Panel Panel
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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![](/img/flags/United-states.png)
Nuclear-Mito NGS Panel Panel
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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![](/img/flags/United-states.png)
Congenital Myasthenic Syndrome NGS Panel Panel
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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![](/img/flags/United-states.png)
CHAT Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the CHAT gene.
More info about this panel![](/img/flags/United-states.png)
Congenital Myasthenic Syndromes Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Central Hypoventilation and Apnea Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Arthrogryposes Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Comprehensive Pulmonology Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Catecholaminergic polymorphic ventricular tachycardia type 1 Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Bioarray
This panel specifically test the CHAT gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
MYASTHENIC SYNDROME WITH EPISODIC APNEA (FAMILIAL INFANTIL MYASTHENYA) Panel
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By Laboratorio de Genetica Clinica SL
This panel specifically test the CHAT gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
MYASTHENIC SYNDROME, CONGENITAL NGS PANEL Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Congenital Myasthenia , Sequencing CHAT Gene Panel
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By Reference Laboratory Genetics
This panel specifically test the CHAT gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Congenital Myasthenia , Panel Massive Sequencing (NGS) 12 Genes Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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