MTM1 gene related symptoms and diseases
All the information presented here about the MTM1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MTM1 gene
Symptoms // Phenotype | % Cases |
---|---|
Myopathy | Very Common - Between 80% and 100% cases |
Intellectual disability | Uncommon - Between 30% and 50% cases |
Neonatal respiratory distress | Uncommon - Between 30% and 50% cases |
Myotonia | Uncommon - Between 30% and 50% cases |
Ophthalmoparesis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with MTM1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Pyloric stenosis
- Cholelithiasis
- Atrioventricular block
- Hemangioma
- Sleep apnea
- Severe muscular hypotonia
- External ophthalmoplegia
- Accelerated skeletal maturation
And 74 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MTM1 gene
Here you will find a list of rare diseases related to the MTM1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
X-LINKED CENTRONUCLEAR MYOPATHY
Alternate names
X-LINKED CENTRONUCLEAR MYOPATHY Is also known as x-linked myotubular myopathy, myotubular myopathy, x-linked, myotubular myopathy 1, xlmtm, mtmx, xlcnm, mtm1
Description
X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.
Most common symptoms of X-LINKED CENTRONUCLEAR MYOPATHY
- Intellectual disability
- Seizures
- Generalized hypotonia
- Scoliosis
- Muscle weakness
More info about X-LINKED CENTRONUCLEAR MYOPATHY
X-LINKED MYOTUBULAR MYOPATHY-ABNORMAL GENITALIA SYNDROME
Alternate names
X-LINKED MYOTUBULAR MYOPATHY-ABNORMAL GENITALIA SYNDROME Is also known as xq28 contiguous gene deletion syndrome
Description
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.
Most common symptoms of X-LINKED MYOTUBULAR MYOPATHY-ABNORMAL GENITALIA SYNDROME
- Myopathy
- Hypospadias
- Micropenis
- Bifid scrotum
More info about X-LINKED MYOTUBULAR MYOPATHY-ABNORMAL GENITALIA SYNDROME
Search interest in MTM1
Potential gene panels for MTM1 gene
Congenital Myopathy Advanced Sequencing Evaluation Panel
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 panelNGS XLID Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panelMyotubular Myopathy, X-linked Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the MTM1 gene.
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 panelX-Linked Centronuclear Myopathy Panel
By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
This panel specifically test the MTM1 gene.
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 panelCongenital Muscular Myopathy Panel
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 panelMTM1 sequencing Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the MTM1 gene.
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 panelMTM1 deletion/duplication analysis Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the MTM1 gene.
More info about this panelCongenital Myopathy Sequencing Panel Panel
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 panelCongenital Myopathy Deletion/Duplication Panel Panel
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 panelCentronuclear Myopathy Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Centronuclear Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 CCDC78 SPEG DNM2 MTM1 MYF6
More info about this panelMTM1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MTM1 gene.
More info about this panelX-Linked Centronuclear Myopathy (sequence analysis of MTM1 gene) Panel
By CGC Genetics
This panel specifically test the MTM1 gene.
More info about this panelCongenital myopathy (NGS panel of 19 genes) Panel
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 panelCongenital myopathy (NGS panel of 19 genes) Panel
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 panelX-Linked Centronuclear Myopathy Panel
By Mersey Regional Genetics Laboratories Liverpool Women's Hospital
This panel specifically test the MTM1 gene.
More info about this panelCongenital Myopathy Sequencing Panel Panel
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 panelCentronuclear Myopathy, X-Linked via MTM1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the MTM1 gene.
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 panelX-Linked Centronuclear Myopathy Panel
By MGZ Medical Genetics Center
This panel specifically test the MTM1 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 panelMental Retardation and Dysmorphology - panels Panel
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelSyndromal Diseases - panels Panel
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelHistological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy Panel
By MGZ Medical Genetics Center Histological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 ACTA1 CCDC78 SELENON CFL2 MTMR14
More info about this panelX-Linked Mental Retardation Panel
By MGZ Medical Genetics Center X-Linked Mental Retardation that also includes the following genes: RPL10 RPS6KA3 SLC12A6 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3
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 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 panelMyotubular myopathy X-linked Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MTM1 gene.
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 panelCongenital and Distal Myopathies Panel Panel
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 panelSingle gene testing MTM1 Panel
By CeGaT GmbH
This panel specifically test the MTM1 gene.
More info about this panelMTM1 - Gene sequencing Panel
By Clinical Genetics Academic Medical Center
This panel specifically test the MTM1 gene.
More info about this panelCongenital Myopathy and Distal Myopathy NGS panel Panel
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 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 Cardiomyopathy and Skeletal Muscle Disease Panel Panel
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 panelInvitae Congenital Myopathy Panel Panel
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 panelInvitae Centronuclear Myopathy Panel Panel
By Invitae Invitae Centronuclear Myopathy Panel that also includes the following genes: RYR1 BIN1 TTN CCDC78 DNM2 MTM1
More info about this panelInvitae Comprehensive Myopathy Panel Panel
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 panelMyotubular myopahy, X-linked: MTM1 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the MTM1 gene.
More info about this panelMyotubular myopahy, X-linked: MTM1 gene deletions-duplications analysis (MLPA) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the MTM1 gene.
More info about this panelNEMALINE MYOPATHY Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NEMALINE MYOPATHY that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 MTM1 NEB
More info about this panelX-Linked Myotubular Myopathy: MTM1 Full Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the MTM1 gene.
More info about this panelX-Linked Myotubular Myopathy: MTM1 Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the MTM1 gene.
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 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 panelXLID NGS Panel Panel
By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panelMTM1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MTM1 gene.
More info about this panelX-chromosome High Resolution microarray analysis Panel
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panelX-linked Intellectual Disability Panel Panel
By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5
More info about this panelComprehensive Muscular Dystrophy / Myopathy Panel Panel
By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN
More info about this panelNemaline Myopathy Panel Panel
By Blueprint Genetics Nemaline Myopathy Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 KLHL40 KBTBD13 LMOD3 MTM1
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 panelX-linked centronuclear myopathy Panel
By Bioarray
This panel specifically test the MTM1 gene.
More info about this panelRapid microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelHigh-Resolution Rapid Microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelMYOTUBULAR / CENTRONUCLEAR MYOPATHY (X-LINKED) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the MTM1 gene.
More info about this panelCENTRONUCLEAR MYOPATHY NGS PANEL Panel
By Laboratorio de Genetica Clinica SL CENTRONUCLEAR MYOPATHY NGS PANEL that also includes the following genes: RYR1 BIN1 SPEG MAMLD1 MTMR14 DNM2 MTM1 MYF6
More info about this panelX-Linked Myotubular Myopathy , Sequencing MTM1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the MTM1 gene.
More info about this panelX-Linked Myotubular Myopathy , Deletions-Duplications (MLPA) MTM1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the MTM1 gene.
More info about this panelNemaline Myopathy, Panel Massive Sequencing (NGS) 8 Genes Panel
By Reference Laboratory Genetics Nemaline Myopathy, Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 MTM1 NEB
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 panelCentronuclear Myopathy , Panel Massive Sequencing (NGS) 5 Genes Panel
By Reference Laboratory Genetics Centronuclear Myopathy , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: RYR1 BIN1 DNM2 MTM1 MYF6
More info about this panelCentronuclear Myopathy: gene deletion/duplication Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the MTM1 gene.
More info about this panelCentronuclear Myopathy: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the MTM1 gene.
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