KBTBD13 gene related symptoms and diseases
All the information presented here about the KBTBD13 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KBTBD13 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Neck muscle weakness | Very Common - Between 80% and 100% cases |
| Limb muscle weakness | Very Common - Between 80% and 100% cases |
| Exercise intolerance | Very Common - Between 80% and 100% cases |
| Muscle stiffness | Very Common - Between 80% and 100% cases |
| Clumsiness | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with KBTBD13 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Bradykinesia
- Nemaline bodies
- Myopathy
Not very common - Between 30% and 50% cases
- Scapular winging
- Narrow face
- Facial diplegia
- Waddling gait
- Long face
And 45 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KBTBD13 gene
Here you will find a list of rare diseases related to the KBTBD13. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEMALINE MYOPATHY 6; NEM6
Description
Nemaline myopathy-6 is an autosomal dominant skeletal muscle disorder characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. Histopathologic changes seen on skeletal muscle biopsy include nemaline rods, cores devoid of oxidative enzyme activity, and predominance of hypertrophic type 1 fibers. There is no cardiac or respiratory involvement (summary by Sambuughin et al., 2010).
Most common symptoms of NEMALINE MYOPATHY 6; NEM6
- Muscle weakness
- Peripheral neuropathy
- Gait disturbance
- Dysphagia
- Myopathy
More info about NEMALINE MYOPATHY 6; NEM6
CHILDHOOD-ONSET NEMALINE MYOPATHY
Alternate names
CHILDHOOD-ONSET NEMALINE MYOPATHY Is also known as mild nemaline myopathy
Description
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.
Most common symptoms of CHILDHOOD-ONSET NEMALINE MYOPATHY
- Generalized hypotonia
- Scoliosis
- Hypertelorism
- Micrognathia
- Ptosis
More info about CHILDHOOD-ONSET NEMALINE MYOPATHY
SOURCES: ORPHANET
Search interest in KBTBD13
Potential gene panels for KBTBD13 gene
Congenital Myopathy Advanced Sequencing Evaluation Panel
United States.
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 United States.
Neuromuscular Disorders Panel Panel
United States.
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 United States.
Congenital Muscular Myopathy Panel
United States.
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 United States.
Neuromuscular Disorders Sequencing Panel Panel
United States.
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 United States.
Congenital Myopathy Sequencing Panel Panel
United States.
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 United States.
Congenital Myopathy Deletion/Duplication Panel Panel
United States.
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 United States.
Nemaline Myopathy Sequencing Panel Panel
United States.
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 panel United States.
Nemaline Myopathy 6 Panel
Switzerland.
By Human Genetics University Hospital Bern
This panel specifically test the KBTBD13 gene.
More info about this panel Switzerland.
Nemaline myopathy 6 (sequence analysis of KBTBD13 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the KBTBD13 gene.
More info about this panel Portugal.
Congenital myopathy (NGS panel of 19 genes) Panel
Portugal.
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 Portugal.
Congenital myopathy (NGS panel of 19 genes) Panel
Portugal.
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 Portugal.
Congenital Myopathy Sequencing Panel Panel
United States.
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 United States.
Nemaline Myopathy With Cores (NEM6) via KBTBD13 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the KBTBD13 gene.
More info about this panel United States.
Nemaline Myopathy Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Comprehensive Neuromuscular Sequencing Panel Panel
United States.
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 United States.
KBTBD13-Related Nemaline Myopathy Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the KBTBD13 gene.
More info about this panel Germany.
Histological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy Panel
Germany.
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 panel Germany.
Newborn: “Floppy Infant “ Panel
Germany.
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 Germany.
Muscle Disease with Contractures and/or Rigid Spine Panel
Germany.
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 panel Germany.
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel
Germany.
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 Germany.
KBTBD13 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the KBTBD13 gene.
More info about this panel Netherlands.
Nemaline myopathy panel Panel
Netherlands.
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 panel Netherlands.
Nemaline myopathy type 6 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the KBTBD13 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
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 Germany.
Congenital and Distal Myopathies Panel Panel
Germany.
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 Germany.
Invitae Comprehensive Neuromuscular Disorders Panel Panel
United States.
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 United States.
Invitae Nemaline Myopathy Panel Panel
United States.
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 panel United States.
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel
United States.
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 United States.
Invitae Congenital Myopathy Panel Panel
United States.
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 United States.
Invitae Comprehensive Myopathy Panel Panel
United States.
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 United States.
Nemaline Myopathy NGS Panel Panel
United States.
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 panel United States.
KBTBD13 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KBTBD13 gene.
More info about this panel United States.
Comprehensive Muscular Dystrophy / Myopathy Panel Panel
Finland.
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 panel Finland.
Nemaline Myopathy Panel Panel
Finland.
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 panel Finland.
Nemaline myopathy type 6 Panel
Spain.
By Bioarray
This panel specifically test the KBTBD13 gene.
More info about this panel Spain.
Nemaline Congenital Myopathy NGS and Deletion/Duplication Panel Panel
United States.
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 panel United States.
KBTBD13 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the KBTBD13 gene.
More info about this panel United States.
NEMALINE MYOPATHY NGS PANEL Panel
Spain.
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 panel Spain.
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
Spain.
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 Spain.
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