CNTN1 gene related symptoms and diseases
All the information presented here about the CNTN1 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 CNTN1 gene
Symptoms // Phenotype | % Cases |
---|---|
Generalized hypotonia | Very Common - Between 80% and 100% cases |
High, narrow palate | Very Common - Between 80% and 100% cases |
Overlapping fingers | Very Common - Between 80% and 100% cases |
Fetal akinesia sequence | Very Common - Between 80% and 100% cases |
Scaphocephaly | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CNTN1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Akinesia
- Poor suck
- Respiratory insufficiency due to muscle weakness
- Joint contracture of the hand
- Decreased fetal movement
- Single transverse palmar crease
- Arachnodactyly
- Growth delay
And 11 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CNTN1 gene
Here you will find a list of rare diseases related to the CNTN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE
Description
Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.
Most common symptoms of CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE
- Generalized hypotonia
- Growth delay
- Hypertelorism
- Flexion contracture
- High palate
More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE
Search interest in CNTN1
Potential gene panels for CNTN1 gene
Congenital Myopathy Advanced Sequencing Evaluation Panel
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By Athena Diagnostics Inc Congenital Myopathy Advanced Sequencing Evaluation that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON TRIM32
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)
Congenital Muscular Myopathy Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Congenital Muscular Myopathy that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 ACTA1 SELENON CFL2 CNTN1 DNM2
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 Myopathy Sequencing Panel Panel
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By Genetic Services Laboratory University of Chicago Congenital Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON
More info about this panel![](/img/flags/United-states.png)
Congenital Myopathy Deletion/Duplication Panel Panel
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By Genetic Services Laboratory University of Chicago Congenital Myopathy Deletion/Duplication Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON
More info about this panel![](/img/flags/United-states.png)
Compton-North congenital myopathy (sequence analysis of CNTN1 gene) Panel
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By CGC Genetics
This panel specifically test the CNTN1 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Congenital myopathy (NGS panel of 19 genes) Panel
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By CGC Genetics Congenital myopathy (NGS panel of 19 genes) that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 ACTA1 CCDC78 SELENON CFL2 CNTN1 MAMLD1
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Congenital myopathy (NGS panel of 19 genes) Panel
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By CGC Genetics Congenital myopathy (NGS panel of 19 genes) that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 ACTA1 CCDC78 SELENON CFL2 CNTN1 MAMLD1
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel with CNV Detection that also includes the following genes: CHRNA1 CHRND CHRNE CHRNG CNTN1 COLQ DOK7 KLHL40 GLE1 MUSK
More info about this panel![](/img/flags/United-states.png)
Compton-North Congenital Myopathy via CNTN1 Gene Sequencing with CNV Detection Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the CNTN1 gene.
More info about this panel![](/img/flags/United-states.png)
Congenital Myopathy Sequencing Panel Panel
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By PreventionGenetics PreventionGenetics Congenital Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 MICU1 SELENON
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)
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 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)
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)
Compton-North congenital myopathy Panel
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By Centogene AG - the Rare Disease Company
This panel specifically test the CNTN1 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Congenital and Distal Myopathies Panel Panel
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By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Congenital Myopathy and Distal Myopathy NGS panel Panel
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By Asper Biogene Asper Biogene LLC Congenital Myopathy and Distal Myopathy NGS panel that also includes the following genes: RYR1 SQSTM1 TIA1 TNNT1 TPM2 TPM3 MYOT TTN VCP ACTA1
More info about this panel![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.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 Cardiomyopathy and Skeletal Muscle Disease Panel Panel
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By Invitae Invitae Cardiomyopathy and Skeletal Muscle Disease Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN5A SGCA SGCB SGCD SGCG SLC22A5 SQSTM1
More info about this panel![](/img/flags/United-states.png)
Invitae Congenital Myopathy Panel Panel
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By Invitae Invitae Congenital Myopathy Panel that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON KLHL41
More info about this panel![](/img/flags/United-states.png)
Invitae Comprehensive Myopathy Panel Panel
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By Invitae Invitae Comprehensive Myopathy Panel that also includes the following genes: RYR1 BIN1 SCN4A SQSTM1 STIM1 TIA1 TNNT1 TPM2 TPM3 MYOT
More info about this panel![](/img/flags/United-states.png)
CNTN1 Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the CNTN1 gene.
More info about this panel![](/img/flags/United-states.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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