DOK7 gene related symptoms and diseases
All the information presented here about the DOK7 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 DOK7 gene
Symptoms // Phenotype | % Cases |
---|---|
Ptosis | Very Common - Between 80% and 100% cases |
Skeletal muscle atrophy | Very Common - Between 80% and 100% cases |
Easy fatigability | Common - Between 50% and 80% cases |
Fatigable weakness | Common - Between 50% and 80% cases |
Muscle weakness | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with DOK7 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Facial palsy
- High palate
- Scoliosis
- Decreased fetal movement
- Ophthalmoparesis
Not very common - Between 30% and 50% cases
- Strabismus
- Ulnar deviation of the hand
- Cavum septum pellucidum
And 108 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DOK7 gene
Here you will find a list of rare diseases related to the DOK7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10
Alternate names
MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10 Is also known as myasthenic myopathy, formerly, cms ib, formerly, lgm, formerly, myasthenia, limb-girdle, familial, formerly, cms1b, formerly, congenital myasthenic syndrome type ib, formerly
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. CMS10 is an autosomal recessive CMS resulting from a postsynaptic defect affecting endplate maintenance of the NMJ. Patients present with limb-girdle weakness in the first decade. Treatment with ephedrine or salbutamol may be beneficial; cholinesterase inhibitors 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, 10; CMS10
- Strabismus
- Muscle weakness
- Ptosis
- Skeletal muscle atrophy
- Fatigue
More info about MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10
SOURCES: OMIM
FETAL AKINESIA DEFORMATION SEQUENCE
Alternate names
FETAL AKINESIA DEFORMATION SEQUENCE Is also known as arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome, arthrogryposis multiplex congenita with pulmonary hypoplasia, fads, pena-shokeir syndrome type 1, fetal akinesia sequence, pena-shokeir syndrome, type i
Description
The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.
Most common symptoms of FETAL AKINESIA DEFORMATION SEQUENCE
- Scoliosis
- Growth delay
- Hypertelorism
- Micrognathia
- Cleft palate
More info about FETAL AKINESIA DEFORMATION SEQUENCE
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 DOK7
Potential gene panels for DOK7 gene
GeneAware Complete Panel Version 2 (Female) Panel
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 panelGeneAware Complete Panel Version 2 (Male) Panel
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 panelCongenital Myasthenic Syndrome Advanced Sequencing Evaluation Panel
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 panelNeuromuscular Disorders Panel Panel
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 panelCongenital Contractures Panel Panel
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 panelComprehensive Neuromuscular Panel Panel
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 panelNeuromuscular Disorders Sequencing Panel Panel
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 panelCongenital Myasthenic Syndrome Sequencing Panel Panel
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 panelCongenital Myasthenic Syndrome Deletion/Duplication Panel Panel
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 panelDOK7. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the DOK7 gene.
More info about this panelCHRNA1, CHAT, CHRNE, RAPSN, DOK7, COLQ. NextGeneDx.Complete sequencing by NGS Panel
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 panelMyasthenic syndrome, congenital (NGS panel for 17genes) Panel
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 panelPena-Shokeir syndrome type 1 (sequence analysis of DOK7 gene) Panel
By CGC Genetics
This panel specifically test the DOK7 gene.
More info about this panelMyasthenia, congenital (sequence analysis of DOK7 gene) Panel
By CGC Genetics
This panel specifically test the DOK7 gene.
More info about this panelFetal akinesia sequence (NGS panel of 3 genes) Panel
By CGC Genetics
This panel specifically test the DOK7 gene.
More info about this panelFetal akinesia sequence (NGS panel of 3 genes) Panel
By CGC Genetics
This panel specifically test the DOK7 gene.
More info about this panelFetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel with CNV Detection Panel
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 panelFamilial Limb Girdle Myasthenia Syndrome via DOK7 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the DOK7 gene.
More info about this panelCongenital Myasthenic Syndrome Sequencing Panel with CNV Detection Panel
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 panelFetal Concerns Sequencing Panel Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection that also includes the following genes: RIT1 SCN5A SLC17A5 BRAF SOS1 CBL SHOC2 KAT6B CHRNA1 CHRND
More info about this panelComprehensive Neuromuscular Sequencing Panel Panel
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 panelCongenital contracture syndrome extended NGS panel Panel
By Connective Tissue Gene Tests Congenital contracture syndrome extended NGS panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1
More info about this panelCongenital contracture syndrome extended Comprehensive panel Panel
By Connective Tissue Gene Tests Congenital contracture syndrome extended Comprehensive panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1
More info about this panelCongenital contracture syndrome extended Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Congenital contracture syndrome extended Deletion / Duplication panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1
More info about this panelLethal congenital contracture syndrome and related disorders Comprehensive Panel Panel
By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Comprehensive Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6
More info about this panelLethal congenital contracture syndrome and related disorders NGS Panel Panel
By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders NGS Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6
More info about this panelLethal congenital contracture syndrome and related disorders Deletion / Duplication Panel Panel
By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6
More info about this panelFetal akinesia deformation sequence / congenital myasthenia Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Fetal akinesia deformation sequence / congenital myasthenia that also includes the following genes: CHRNA1 CHRND CHRNE CHRNG COLQ DOK7 MUSK RAPSN
More info about this panelDOK7-Related Congenital Myasthenic Syndrome Panel
By MGZ Medical Genetics Center
This panel specifically test the DOK7 gene.
More info about this panelNeurogenetic Disorders - panels Panel
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 panelCongenital Myasthenic Syndrome (CMS) Panel
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 panelNewborn: “Floppy Infant “ Panel
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 panelBrain Malformations / Neuronal Migration Disorders Panel
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panelMuscle Disease with Ptosis / External Ophthalmoplegia Panel
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 panelMuscle Weakness (Myopathy, Muscular Dystrophy) Panel
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 panelMuscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel
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 panelCongenital Myasthenic Syndrome Panel Panel
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 panelFetal akinesia deformation sequence Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the DOK7 gene.
More info about this panelCongenital myasthenic syndrome panel Panel
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 panelAllNeuro panel Panel
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 panelFetal akinesia deformation sequence Panel
By bio.logis Center for Human Genetics Diagnosticum Fetal akinesia deformation sequence that also includes the following genes: DOK7 RAPSN
More info about this panelCongenital Myasthenic Syndromes and Arthrogryposis Panel Panel
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 panelSingle gene testing DOK7 Panel
By CeGaT GmbH
This panel specifically test the DOK7 gene.
More info about this panelInvitae Comprehensive Neuromuscular Disorders Panel Panel
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 panelInvitae Congenital Myasthenic Syndrome Panel Panel
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 panelPena-Shokeir, syndrome type 1: DOK7 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the DOK7 gene.
More info about this panelMyasthenic, Congenital: DOK7 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the DOK7 gene.
More info about this panelCongenital Myasthenic Panel
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 panelCongenital Myasthenic Syndromes: Sequencing Panel Panel
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 panelExpanded Neuromuscular Disorders: Sequencing Panel Panel
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 panelCongenital Myasthenic Syndromes: Deletion/Duplication Panel Panel
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 panelExpanded Neuromuscular Disorders: Deletion/Duplication Panel Panel
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 panelCongenital Myasthenic Syndrome NGS Panel Panel
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 panelDOK7 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DOK7 gene.
More info about this panelCongenital Myasthenic Syndromes Panel Panel
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 panelArthrogryposes Panel Panel
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 panelCongenital myasthenic syndrome type 1B Panel
By Bioarray
This panel specifically test the DOK7 gene.
More info about this panelARTHROGRYPOSIS MULTIPLEX CONGENITA, PENA-SHOKEIR SYNDROME TYPE 1 Panel
By Laboratorio de Genetica Clinica SL ARTHROGRYPOSIS MULTIPLEX CONGENITA, PENA-SHOKEIR SYNDROME TYPE 1 that also includes the following genes: DOK7 RAPSN
More info about this panelMYASTHENIC SYNDROME, GIRDLE Panel
By Laboratorio de Genetica Clinica SL MYASTHENIC SYNDROME, GIRDLE that also includes the following genes: DOK7 MUSK
More info about this panelPENA-SHOKEIR SYNDROME TYPE 1 (ARTHROGRYPOSIS MULTIPLEX CONGENITA) Panel
By Laboratorio de Genetica Clinica SL PENA-SHOKEIR SYNDROME TYPE 1 (ARTHROGRYPOSIS MULTIPLEX CONGENITA) that also includes the following genes: DOK7 RAPSN
More info about this panelMYASTHENIC SYNDROME, CONGENITAL NGS PANEL Panel
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 panelARTHROGRYPOSIS NGS PANEL Panel
By Laboratorio de Genetica Clinica SL ARTHROGRYPOSIS NGS PANEL that also includes the following genes: TNNI2 TNNT3 TPM2 UBA1 VPS33B SYNE1 FKBP10 NALCN VIPAS39 ZC4H2
More info about this panelCongenital Myasthenia, Sequencing DOK7 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the DOK7 gene.
More info about this panelPena-Shokeir Type 1 Syndrome, Sequencing DOK7 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the DOK7 gene.
More info about this panelCongenital Myasthenia , Panel Massive Sequencing (NGS) 12 Genes Panel
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 panelMuscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
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 panelPena-Shokeir Type 1 Syndrome, Panel Massive Sequencing (NGS) DOK7, RAPSN, MUSK Genes Panel
By Reference Laboratory Genetics Pena-Shokeir Type 1 Syndrome, Panel Massive Sequencing (NGS) DOK7, RAPSN, MUSK Genes that also includes the following genes: DOK7 MUSK RAPSN
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