TNNT1 gene related symptoms and diseases
All the information presented here about the TNNT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TNNT1 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Hypocalcemia | Very Common - Between 80% and 100% cases |
Decreased hip abduction | Very Common - Between 80% and 100% cases |
Abnormality of the rib cage | Very Common - Between 80% and 100% cases |
Type 1 muscle fiber predominance | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TNNT1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Nemaline bodies
- Proximal amyotrophy
- Hip contracture
- Delayed gross motor development
- EMG: myopathic abnormalities
- Respiratory insufficiency due to muscle weakness
- Progressive muscle weakness
- Flexion contracture
And 10 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TNNT1 gene
Here you will find a list of rare diseases related to the TNNT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AMISH NEMALINE MYOPATHY
Alternate names
AMISH NEMALINE MYOPATHY Is also known as amish nemaline myopathy, anm, nemaline myopathy, amish type
Description
Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community.
Most common symptoms of AMISH NEMALINE MYOPATHY
- Intellectual disability
- Flexion contracture
- Motor delay
- Skeletal muscle atrophy
- Tremor
More info about AMISH NEMALINE MYOPATHY
Search interest in TNNT1
Potential gene panels for TNNT1 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 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 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 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 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 panelNemaline Myopathy Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Nemaline Myopathy Sequencing Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 KLHL40 KBTBD13 LMOD3 NEB
More info about this panelNemaline Myopathy 5 Panel
By Human Genetics University Hospital Bern
This panel specifically test the TNNT1 gene.
More info about this panelTNNT1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TNNT1 gene.
More info about this panelNemaline myopathy 5 (sequence analysis of TNNT1 gene) Panel
By CGC Genetics
This panel specifically test the TNNT1 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 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 panelNemaline Myopathy 5 (Amish Nemaline Myopathy) via TNNT1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the TNNT1 gene.
More info about this panelNemaline Myopathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Nemaline Myopathy Sequencing Panel with CNV Detection that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 KLHL40 KBTBD13 LMOD3 NEB
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 panelTNNT1-Related Nemaline Myopathy Panel
By MGZ Medical Genetics Center
This panel specifically test the TNNT1 gene.
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 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 Contractures and/or Rigid Spine Panel
By MGZ Medical Genetics Center Muscle Disease with Contractures and/or Rigid Spine that also includes the following genes: RYR1 TNNT1 TPM2 TPM3 ACTA1 CAPN3 SELENON SYNE2 SYNE1 CFL2
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 panelNemaline Panel Panel
By FirmaLab Nemaline Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 NEB
More info about this panelTNNT1 Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the TNNT1 gene.
More info about this panelNemaline myopathy panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Nemaline myopathy panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 KBTBD13 NEB
More info about this panelNemaline myopathy type 5 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the TNNT1 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 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 panelqCarrier Plus Panel
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 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 Nemaline Myopathy Panel Panel
By Invitae Invitae Nemaline Myopathy Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 MYPN KLHL40 KBTBD13 LMOD3
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 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 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 panelNemaline Myopathy, TNNT1-Related: TNNT1 Full Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the TNNT1 gene.
More info about this panelNemaline Myopathy, TNNT1-Related: TNNT1 Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the TNNT1 gene.
More info about this panelNeuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 SGCA SGCB SGCD SGCE SGCG TCAP TNNI2 TNNT1
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 panelNeuromuscular NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Neuromuscular NGS Panel that also includes the following genes: RYR1 RYR2 SGCA SGCB SGCD SGCE SGCG TCAP TNNI2 TNNT1
More info about this panelNemaline Myopathy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Nemaline Myopathy NGS Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 KBTBD13 NEB
More info about this panelTNNT1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TNNT1 gene.
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 panelNemaline myopathy type 5 Panel
By Bioarray
This panel specifically test the TNNT1 gene.
More info about this panelTNNT1 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the TNNT1 gene.
More info about this panelNemaline Congenital Myopathy NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Nemaline Congenital Myopathy NGS and Deletion/Duplication Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 KBTBD13 NEB
More info about this panelAmish Nemaline Myopathy (TNNT1) Targeted Testing Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the TNNT1 gene.
More info about this panelNEMALINE MYOPATHY NGS PANEL Panel
By Laboratorio de Genetica Clinica SL NEMALINE MYOPATHY NGS PANEL that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 KLHL40 KBTBD13 LMOD3 NEB
More info about this panelNEMALINE MYOPATHY Panel
By Laboratorio de Genetica Clinica SL NEMALINE MYOPATHY that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 NEB
More info about this panelAmish Nemaline Myopathy , Sequencing TNNT1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the TNNT1 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 panelplanTrue Extended Panel
By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
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