ACTA1 gene related symptoms and diseases

All the information presented here about the ACTA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ACTA1 gene

Symptoms // Phenotype % Cases
Waddling gait Common - Between 50% and 80% cases
Facial palsy Common - Between 50% and 80% cases
Nemaline bodies Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with ACTA1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Polyhydramnios
  • Decreased fetal movement
  • Arthrogryposis multiplex congenita
  • High palate
  • Scoliosis
  • Motor delay
  • Hyporeflexia
  • Not very common - Between 30% and 50% cases

  • EMG: myopathic abnormalities

And 198 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ACTA1 gene

Here you will find a list of rare diseases related to the ACTA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY


Alternate names

CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY Is also known as cftdm

Description

Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life.

Most common symptoms of CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Muscular hypotonia


More info about CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

SOURCES: ORPHANET

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD


Alternate names

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm, fiber-type disproportion myopathy, congenital

Description

Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

Most common symptoms of MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

SOURCES: OMIM

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS


Alternate names

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Description

Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

Most common symptoms of CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

SOURCES: MESH ORPHANET OMIM

RIGID SPINE SYNDROME


Alternate names

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form, mdrs1, desmin-related myopathy with mallory bodies, multiminicore disease, severe classic form, myopathy, sepn1-related, rigid spine syndrome, muscular dystrophy, congenital, eichsfeld type, rigid spine congenital muscular

Description

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

Most common symptoms of RIGID SPINE SYNDROME

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


More info about RIGID SPINE SYNDROME

SOURCES: OMIM ORPHANET

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

SEVERE CONGENITAL NEMALINE MYOPATHY


Description

Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.

Most common symptoms of SEVERE CONGENITAL NEMALINE MYOPATHY

  • Low-set ears
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Dysphagia


More info about SEVERE CONGENITAL NEMALINE MYOPATHY

SOURCES: ORPHANET

TYPICAL NEMALINE MYOPATHY


Description

Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.

Most common symptoms of TYPICAL NEMALINE MYOPATHY

  • Scoliosis
  • Micrognathia
  • Ptosis
  • Flexion contracture
  • High palate


More info about TYPICAL NEMALINE MYOPATHY

SOURCES: ORPHANET

INTERMEDIATE NEMALINE MYOPATHY


Description

Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.

Most common symptoms of INTERMEDIATE NEMALINE MYOPATHY

  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy


More info about INTERMEDIATE NEMALINE MYOPATHY

SOURCES: ORPHANET

PROGRESSIVE SCAPULOHUMEROPERONEAL DISTAL MYOPATHY


Description

Scapulohumeroperoneal myopathy is an autosomal dominant muscle disorder characterized by slowly progressive muscle weakness and atrophy affecting both proximal and distal muscles of the upper and lower limbs. Onset is usually in the first decade and can be as early as infancy, although some patients do not notice symptoms until young adulthood. There is marked variability in severity (summary by Zukosky et al., 2015).

Most common symptoms of PROGRESSIVE SCAPULOHUMEROPERONEAL DISTAL MYOPATHY

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Gait disturbance
  • Myopathy


More info about PROGRESSIVE SCAPULOHUMEROPERONEAL DISTAL MYOPATHY

SOURCES: OMIM ORPHANET

ZEBRA BODY MYOPATHY


Description

Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the alpha-skeletal actin (ACTA1) gene may be involved.

Most common symptoms of ZEBRA BODY MYOPATHY

  • Global developmental delay
  • Elevated serum creatine phosphokinase
  • Neonatal hypotonia
  • Proximal muscle weakness
  • Facial palsy


More info about ZEBRA BODY MYOPATHY

SOURCES: ORPHANET


Potential gene panels for ACTA1 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

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

Congenital Contractures Panel Panel

United States.

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

Comprehensive Neuromuscular Panel Panel

United States.

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 panel

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

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

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

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

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

Congenital Myopathy with Fiber-Type Disproportion Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Myopathy with Fiber-Type Disproportion Sequencing Panel that also includes the following genes: RYR1 TPM2 TPM3 ACTA1 SELENON LMNA MYH7

More info about this panel

Nemaline Myopathy 3 Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the ACTA1 gene.

More info about this panel

ACTA1 Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the ACTA1 gene.

More info about this panel

ACTA1, MYH7, RYR1, SEPN1, TPM3 . NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica ACTA1, MYH7, RYR1, SEPN1, TPM3 . NextGeneDx.Complete sequencing by NGS that also includes the following genes: RYR1 TPM3 ACTA1 SELENON MYH7

More info about this panel

ACTA1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ACTA1 gene.

More info about this panel

ACTA1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ACTA1 gene.

More info about this panel

Nemaline myopathy 3 (sequence analysis of ACTA1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ACTA1 gene.

More info about this panel

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

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

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

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

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF

More info about this panel

?-Actin (Skeletal Muscle Form)-Related Myopathy via ACTA1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ACTA1 gene.

More info about this panel

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

Myofibrillar myopathy and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Myofibrillar myopathy and related disorders NGS panel that also includes the following genes: MYOT ACTA1 DNAJB6 LDB3 CRYAB PYROXD1 KY DES FHL1 FLNC

More info about this panel

Myofibrillar myopathy and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Myofibrillar myopathy and related disorders Comprehensive panel that also includes the following genes: MYOT ACTA1 DNAJB6 LDB3 CRYAB PYROXD1 KY DES FHL1 FLNC

More info about this panel

Myofibrillar myopathy and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Myofibrillar myopathy and related disorders Deletion / Duplication panel that also includes the following genes: MYOT ACTA1 DNAJB6 LDB3 CRYAB PYROXD1 KY DES FHL1 FLNC

More info about this panel

ACTA1-Related Nemaline Myopathy Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the ACTA1 gene.

More info about this panel

ACTA1-Related Congenital Fiber-Type Disproportion Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the ACTA1 gene.

More info about this panel

Cardiomyopathy Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Cardiomyopathy that also includes the following genes: TNNI3 TNNT2 TPM1 ACTA1 MYBPC3 MYH7

More info about this panel

Hypertrophic cardiomyopathy - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hypertrophic cardiomyopathy - different panels that also includes the following genes: RIT1 MRPL3 RRAS SLC22A5 BRAF SOS1 SOS2 SURF1 TNNI3 TNNT2

More info about this panel

ACTA1-Related Congenital Fiber-Type Disproportion Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the ACTA1 gene.

More info about this panel

ACTA1-Related Nemaline Myopathy Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the ACTA1 gene.

More info about this panel

Heart Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB

More info about this panel

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

Myotonia Panel

Germany.

By MGZ Medical Genetics Center Myotonia that also includes the following genes: SCN4A ACTA1 CAV3 CLCN1 GAA HINT1 HSPG2 CAVIN1

More info about this panel

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

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

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

Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel

Germany.

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 panel

Nemaline Panel Panel

United States.

By FirmaLab Nemaline Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 NEB

More info about this panel

ACTA1 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the ACTA1 gene.

More info about this panel

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

Myopathy with fiber-type disproportion Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ACTA1 gene.

More info about this panel

Nemaline myopathy type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ACTA1 gene.

More info about this panel

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

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

Single gene testing ACTA1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ACTA1 gene.

More info about this panel

ACTA1-Related Congenital Fiber-Type Disproportion Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the ACTA1 gene.

More info about this panel

Congenital Myopathy and Distal Myopathy NGS panel Panel

Estonia.

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

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Spain.

By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA

More info about this panel

Hypertrophic Cardiomyopathy Short Panel Panel

Spain.

By Health in Code Hypertrophic Cardiomyopathy Short Panel that also includes the following genes: TNNC1 TNNI3 TNNT2 TPM1 TTR ACTA1 DES FLNC GLA LAMP2

More info about this panel

Dilated Cardiomyopathy Panel Panel

Spain.

By Health in Code Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF TAZ TBX20 TCAP

More info about this panel

Skeletal Myopathy Panel Panel

Spain.

By Health in Code Skeletal Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SLC22A5 SLC25A4 SURF1 TAZ TCAP TNNI3 MYOT

More info about this panel

Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel

Spain.

By Health in Code Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SLC22A5 BRAF SLC25A4

More info about this panel

Cardiomyopathies Panel Panel

Spain.

By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1

More info about this panel

Hypertrophic Cardiomyopathy Extended Panel Panel

Spain.

By Health in Code Hypertrophic Cardiomyopathy Extended Panel that also includes the following genes: MRPL3 RYR2 SLC22A5 BRAF SLC25A4 SOS1 SURF1 TAZ TCAP KLF10

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Skeletal myopathy Panel Panel

Spain.

By Health in Code Skeletal myopathy Panel that also includes the following genes: SCO2 SDHA SGCA SGCB SGCD SLC22A5 SLC25A3 SLC25A4 SURF1 TAZ

More info about this panel

Dilated Cardiomyopathy Panel Panel

Spain.

By Health in Code Dilated Cardiomyopathy Panel that also includes the following genes: TAZ TNNC1 TNNI3 TNNT2 TPM1 TTN ACTA1 ACTC1 CAV3 ANKRD1

More info about this panel

Arrhythmia General Panel Panel

Spain.

By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2

More info about this panel

Hypertrophic cardiomyopathy extended panel Panel

Spain.

By Health in Code Hypertrophic cardiomyopathy extended panel that also includes the following genes: MRPL3 RYR2 SCO2 SLC22A5 BRAF SLC25A3 SLC25A4 SOS1 SURF1 TAZ

More info about this panel

Cardiomyopathies General Panel Panel

Spain.

By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD

More info about this panel

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

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

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

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

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

Invitae Congenital Fiber-Type Disproportion Panel Panel

United States.

By Invitae Invitae Congenital Fiber-Type Disproportion Panel that also includes the following genes: RYR1 TPM2 TPM3 ACTA1 SELENON LMNA MYH7

More info about this panel

Nemaline myopathy: ACTA1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ACTA1 gene.

More info about this panel

NEMALINE MYOPATHY Panel

Spain.

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 panel

CONGENITAL MYOPATHY Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CONGENITAL MYOPATHY that also includes the following genes: RYR1 TPM2 TPM3 ACTA1 SELENON MYH7

More info about this panel

Nemaline Myopathy, ACTA1-Related: ACTA1 Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the ACTA1 gene.

More info about this panel

Nemaline Myopathy, ACTA1-Related: ACTA1 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the ACTA1 gene.

More info about this panel

Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel Panel

United States.

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 panel

Expanded Neuromuscular Disorders: Sequencing Panel Panel

United States.

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 panel

Expanded Neuromuscular Disorders: Deletion/Duplication Panel Panel

United States.

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 panel

Neuromuscular NGS Panel Panel

United States.

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 panel

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

Congenital Fiber Type Disproportion NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Congenital Fiber Type Disproportion NGS Panel that also includes the following genes: RYR1 TPM2 TPM3 ACTA1 SELENON

More info about this panel

ACTA1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ACTA1 gene.

More info about this panel

Cardiomyopathy Panel Panel

Finland.

By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB

More info about this panel

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

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

Arthrogryposes Panel Panel

Finland.

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 panel

Comprehensive Cardiology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA

More info about this panel

Dilated Cardiomyopathy (DCM) Panel Panel

Finland.

By Blueprint Genetics Dilated Cardiomyopathy (DCM) Panel that also includes the following genes: SCN5A TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN

More info about this panel

Hypertrophic Cardiomyopathy (HCM) Panel Panel

Finland.

By Blueprint Genetics Hypertrophic Cardiomyopathy (HCM) Panel that also includes the following genes: BRAF SLC25A4 SOS1 TNNI3 TNNT2 TPM1 TTR ACTA1 ELAC2 JPH2

More info about this panel

Nemaline myopathy type 3 Panel

Spain.

By Bioarray

This panel specifically test the ACTA1 gene.

More info about this panel

Congenital fiber-type disproportion myopathy Panel

Spain.

By Bioarray

This panel specifically test the ACTA1 gene.

More info about this panel

Severe congenital nemaline myopathy Panel

Spain.

By Bioarray

This panel specifically test the ACTA1 gene.

More info about this panel

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

ACTA1 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 ACTA1 gene.

More info about this panel

CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY that also includes the following genes: RYR1 TPM2 TPM3 ACTA1 SELENON MYH7

More info about this panel

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

ACTIN MYOPATHY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ACTA1 gene.

More info about this panel

NEMALINE MYOPATHY Panel

Spain.

By Laboratorio de Genetica Clinica SL NEMALINE MYOPATHY that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 NEB

More info about this panel

Nemaline Myopathy, Sequencing ACTA1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ACTA1 gene.

More info about this panel

Congenital Myopathy , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Myopathy , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: RYR1 TPM2 TPM3 ACTA1 SELENON MYH7

More info about this panel

Nemaline Myopathy, Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

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 panel

Congenital Fiber-Type Disproportion Myopathy , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Fiber-Type Disproportion Myopathy , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: RYR1 TPM2 TPM3 ACTA1 SELENON MYH7

More info about this panel

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


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