FHL1 gene related symptoms and diseases

All the information presented here about the FHL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FHL1 gene

Symptoms // Phenotype % Cases
Elevated serum creatine phosphokinase Very Common - Between 80% and 100% cases
Myopathy Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Respiratory failure Uncommon - Between 30% and 50% cases
Muscular dystrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with FHL1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Rimmed vacuoles
  • Flexion contracture
  • Gait disturbance
  • Muscle weakness
  • Proximal muscle weakness
  • Scapular winging
  • Spinal rigidity
  • Respiratory insufficiency

And 163 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FHL1 gene

Here you will find a list of rare diseases related to the FHL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY


Most common symptoms of X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY

  • Intellectual disability
  • Scoliosis
  • Muscular hypotonia
  • Ptosis
  • Gait disturbance


More info about X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY

SOURCES: ORPHANET

X-LINKED SCAPULOPERONEAL MUSCULAR DYSTROPHY


Alternate names

X-LINKED SCAPULOPERONEAL MUSCULAR DYSTROPHY Is also known as x-linked scapuloperoneal syndrome, x-linked spmd

Description

X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging.


More info about X-LINKED SCAPULOPERONEAL MUSCULAR DYSTROPHY

SOURCES: ORPHANET

SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM


Alternate names

SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM Is also known as scapuloperoneal myopathy, fhl1-related

Most common symptoms of SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM

  • Flexion contracture
  • Skeletal muscle atrophy
  • Myopathy
  • Arrhythmia
  • Hyporeflexia


More info about SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM

SOURCES: OMIM

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1


Alternate names

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 Is also known as muscular dystrophy, facioscapulohumeral, type 1a, fshd, fshd1a, landouzy-dejerine muscular dystrophy, muscular dystrophy, facioscapulohumeral, type 1, fmd, facioscapulohumeral muscular dystrophy

Description

Facioscapulohumeral muscular dystrophy is the third most common hereditary disease of muscle after Duchenne (DMD ) and myotonic (OMIM ) dystrophy. It is a highly variable disorder with weakness appearing from infancy to late life but typically in the second decade. In general, the disease initially involves the face and the scapulae followed by the foot dorsiflexors and the hip girdles. Typical features are striking asymmetry of muscle involvement from side to side and sparing of bulbar extraocular and respiratory muscles (Tawil et al., 1998).Richards et al. (2012) provided a detailed review of FSHD.See also FSHD2 (OMIM ), which is phenotypically indistinguishable from FSHD1 but not associated with contraction of the D4Z4 microsatellite repeat. Evidence suggests, however, that epigenetic changes in this region are associated with both FSHD1 and FSHD2 (Zeng et al., 2009).

Most common symptoms of FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


More info about FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1

SOURCES: OMIM

REDUCING BODY MYOPATHY


Description

Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.

Most common symptoms of REDUCING BODY MYOPATHY

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Short neck
  • Respiratory insufficiency


More info about REDUCING BODY MYOPATHY

SOURCES: OMIM ORPHANET

REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET; RBMX1A


Description

Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death, and a less severe form has onset in late childhood or adulthood (RBMX1B ) (summary by Liewluck et al., 2007 and Shalaby et al., 2009).

Most common symptoms of REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET; RBMX1A

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Motor delay


More info about REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET; RBMX1A

SOURCES: OMIM

URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU


Alternate names

URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU Is also known as faciocardiomusculoskeletal syndrome, uruguay type, fcms

Most common symptoms of URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

  • Scoliosis
  • Low-set ears
  • Downslanted palpebral fissures
  • Cardiomyopathy
  • Congestive heart failure


More info about URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

SOURCES: OMIM MESH

X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY


Alternate names

X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY Is also known as xmpma

Description

X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.

Most common symptoms of X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY

  • Scoliosis
  • Muscle weakness
  • Pain
  • Ptosis
  • Flexion contracture


More info about X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY

SOURCES: OMIM ORPHANET


Potential gene panels for FHL1 gene

Myofibrillar Myopathy Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Myofibrillar Myopathy Advanced Sequencing Evaluation that also includes the following genes: MYOT TTN LDB3 SELENON CRYAB DES FHL1 FLNC BAG3

More info about this panel

Emery-Dreifuss Muscular Dystrophy Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Emery-Dreifuss Muscular Dystrophy Advanced Sequencing Evaluation that also includes the following genes: SYNE2 SYNE1 TMEM43 EMD FHL1 LMNA

More info about this panel

Muscular Dystrophy Advanced Evaluation Panel

United States.

By Athena Diagnostics Inc Muscular Dystrophy Advanced Evaluation that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CCDC78 CAPN3 DNAJB6

More info about this panel

Congenital Muscular Dystrophy Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Congenital Muscular Dystrophy Advanced Sequencing Evaluation that also includes the following genes: TCAP RXYLT1 B4GAT1 SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2

More info about this panel

Comprehensive Cardiac Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Cardiac Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1

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

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

Limb-Girdle Muscular Dystrophy Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Limb-Girdle Muscular Dystrophy that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 CAV3

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

Emery-Dreifuss Muscular Dystrophy Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Emery-Dreifuss Muscular Dystrophy Sequencing Panel that also includes the following genes: SYNE2 SYNE1 TMEM43 EMD FHL1 LMNA

More info about this panel

EMD-Related Emery-Dreifuss Muscular Dystrophy, X-Linked Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen EMD-Related Emery-Dreifuss Muscular Dystrophy, X-Linked that also includes the following genes: EMD FHL1

More info about this panel

X-linked myopathy with postural muscle atrophy Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the FHL1 gene.

More info about this panel

Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR

More info about this panel

FHL1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FHL1 gene.

More info about this panel

FHL1-Related Myopathies - FHL1 Sequence Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia

This panel specifically test the FHL1 gene.

More info about this panel

FHL1-Related Myopathies - FHL1 Known Point Mutation Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia

This panel specifically test the FHL1 gene.

More info about this panel

X-linked Emery-Dreifuss muscular dystrophy type 6 (sequence analysis of FHL1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FHL1 gene.

More info about this panel

Congenital muscular dystrophies (NGS panel for 31 genes) Panel

Portugal.

By CGC Genetics Congenital muscular dystrophies (NGS panel for 31 genes) that also includes the following genes: TCAP TTN SELENON SYNE2 SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1

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

Distal Hereditary Myopathy Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Distal Hereditary Myopathy Sequencing Panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 KLHL9

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

Pan Cardiomyopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Pan Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN5A SCO2 SGCD SGCG BRAF SOS1 TAZ TCAP TGFB3

More info about this panel

FHL1-Myopathies via FHL1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FHL1 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

Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCO2 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL

More info about this panel

Distal Myopathy NGS panel Panel

United States.

By Connective Tissue Gene Tests Distal Myopathy NGS panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE

More info about this panel

Distal Myopathy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Distal Myopathy Comprehensive panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE

More info about this panel

Distal Myopathy Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Distal Myopathy Deletion / Duplication panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE

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

Limb girdle muscular dystrophy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Limb girdle muscular dystrophy Comprehensive panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

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

Limb girdle muscular dystrophy Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Limb girdle muscular dystrophy Deletion / Duplication panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

More info about this panel

Limb girdle muscular dystrophy NGS panel Panel

United States.

By Connective Tissue Gene Tests Limb girdle muscular dystrophy NGS panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

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

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

Histological Myofibrillar Myopathy Panel

Germany.

By MGZ Medical Genetics Center Histological Myofibrillar Myopathy that also includes the following genes: MYOT TTN VCP LDB3 GNE CRYAB DES FHL1 FLNC LMNA

More info about this panel

Muscular Dystrophy: X-linked Panel

Germany.

By MGZ Medical Genetics Center Muscular Dystrophy: X-linked that also includes the following genes: DMD EMD FHL1

More info about this panel

Muscular Dystrophy: Emery-Dreifuss Panel

Germany.

By MGZ Medical Genetics Center Muscular Dystrophy: Emery-Dreifuss that also includes the following genes: SYNE2 SYNE1 TMEM43 EMD FHL1 LMNA

More info about this panel

Myopathy – Rigid Spine Panel

Germany.

By MGZ Medical Genetics Center Myopathy – Rigid Spine that also includes the following genes: RYR1 SELENON COL6A1 COL6A2 COL6A3 EMD FHL1 GAA LAMA2 LMNA

More info about this panel

FHL1 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the FHL1 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

Mental Retardation and Dysmorphology - panels Panel

Germany.

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 panel

Syndromal Diseases - panels Panel

Germany.

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 panel

Emery-Dreifuss Muscular Dystrophy Panel

Germany.

By MGZ Medical Genetics Center Emery-Dreifuss Muscular Dystrophy that also includes the following genes: SYNE2 SYNE1 TMEM43 EMD FHL1 LMNA

More info about this panel

X-Linked Mental Retardation Panel

Germany.

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 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 Disease with Distal Myopathy Panel

Germany.

By MGZ Medical Genetics Center Muscle Disease with Distal Myopathy that also includes the following genes: TCAP TIA1 MYOT TTN VCP CCDC78 CAPN3 CAV3 LDB3 BICD2

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 Disease with FSHD Phenocopies Panel

Germany.

By MGZ Medical Genetics Center Muscle Disease with FSHD Phenocopies that also includes the following genes: SGCA VCP CAPN3 SMCHD1 FHL1

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

Cardiomyopathy panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Cardiomyopathy panel that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Myofibrillar myopathy panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Myofibrillar myopathy panel that also includes the following genes: MYOT LDB3 CRYAB DES FHL1 FLNC BAG3

More info about this panel

Myofibrillar myopathy panel Panel

Germany.

By Centogene AG - the Rare Disease Company Myofibrillar myopathy panel that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3

More info about this panel

Emery-Dreifuss muscular dystrophy type 6 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FHL1 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

Muscular Dystrophies Panel Panel

Germany.

By CeGaT GmbH Muscular Dystrophies Panel that also includes the following genes: TCAP TTN SELENON SYNE2 SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1

More info about this panel

Cardiomyopathy, hypertrophic Panel Panel

Germany.

By CeGaT GmbH Cardiomyopathy, hypertrophic Panel that also includes the following genes: TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL MYOZ2 JPH2

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

Left Ventricular Non-Compactation Panel Panel

Spain.

By Health in Code Left Ventricular Non-Compactation Panel that also includes the following genes: RYR2 TAZ TNNC1 TNNI3 TNNT2 TPM1 TTN PRDM16 ACTC1 CASQ2

More info about this panel

Restrictive Cardiomyopathy Panel Panel

Spain.

By Health in Code Restrictive Cardiomyopathy Panel that also includes the following genes: TNNC1 TNNI3 TNNT2 TPM1 TTN TTR ACTC1 ACTN2 MYPN DES

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

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

Non-compaction cardiomyopathy Panel

Spain.

By Health in Code Non-compaction cardiomyopathy that also includes the following genes: RYR2 TAZ TNNC1 TNNI3 TNNT2 TPM1 TTN PRDM16 ACTC1 CASQ2

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

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

Resctrictive cardiomyopathy Panel

Spain.

By Health in Code Resctrictive cardiomyopathy that also includes the following genes: TNNC1 TNNI3 TNNT2 TPM1 TTN TTR ACTC1 ACTN2 MYPN DES

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 Arrhythmia and Cardiomyopathy Comprehensive Panel Panel

United States.

By Invitae Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel that also includes the following genes: RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TGFB3 TNNC1 TNNI3 TNNT2

More info about this panel

Invitae Cardiomyopathy Comprehensive Panel Panel

United States.

By Invitae Invitae Cardiomyopathy Comprehensive Panel that also includes the following genes: RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1

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 Myofibrillar Myopathy Panel Panel

United States.

By Invitae Invitae Myofibrillar Myopathy Panel that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3

More info about this panel

Invitae Comprehensive Muscular Dystrophy Panel Panel

United States.

By Invitae Invitae Comprehensive Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN RXYLT1 CAPN3 DNAJB6

More info about this panel

Invitae Distal Myopathy Panel Panel

United States.

By Invitae Invitae Distal Myopathy Panel that also includes the following genes: SQSTM1 TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE CRYAB

More info about this panel

Invitae Emery-Dreifuss Muscular Dystrophy Panel Panel

United States.

By Invitae Invitae Emery-Dreifuss Muscular Dystrophy Panel that also includes the following genes: EMD FHL1 LMNA

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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

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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

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Invitae Hypertrophic Cardiomyopathy Panel Panel

United States.

By Invitae Invitae Hypertrophic Cardiomyopathy Panel that also includes the following genes: TCAP TNNC1 TNNI3 TNNT2 TPM1 TTR VCL CACNA1C ACTC1 CAV3

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Myofibrillar myopathy Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Myofibrillar myopathy that also includes the following genes: TPM3 MYOT TTN DNAJB6 LDB3 TRIM32 CRYAB DES FHL1 FLNC

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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

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Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 CAV3

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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

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Muscular Dystrophies NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Muscular Dystrophies NGS Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN MMEL1 CAPN3 DNAJB6

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Distal Hereditary Myopathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Distal Hereditary Myopathy NGS Panel that also includes the following genes: TCAP TTN VCP CAV3 LDB3 GNE CRYAB ANO5 DES DYSF

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Myofibrillar Myopathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Myofibrillar Myopathy NGS Panel that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3

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FHL1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FHL1 gene.

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X-chromosome High Resolution microarray analysis Panel

United States.

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

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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

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Emery-Dreifuss Muscular Dystrophy Panel Panel

Finland.

By Blueprint Genetics Emery-Dreifuss Muscular Dystrophy Panel that also includes the following genes: TTN TMEM43 DMD EMD FHL1 LMNA

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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

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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

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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

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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

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Genetic Study of Hypertrophic Cardiomyopathy Panel (2 panels: 57 genes or 18 genes) Panel

Portugal.

By HeartGenetics, Genetics and Biotechnology, SA Genetic Study of Hypertrophic Cardiomyopathy Panel (2 panels: 57 genes or 18 genes) that also includes the following genes: BRAF TCAP TNNC1 TNNI3 TNNT2 TPM1 ACTC1 LDB3 CRYAB CSRP3

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X-linked Emery-Dreifuss muscular dystrophy type 6 Panel

Spain.

By Bioarray

This panel specifically test the FHL1 gene.

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CardioGene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis CardioGene Set that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A SGCD BRAF SNTA1 SOS1 TAZ

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Cardiomyopathy Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Cardiomyopathy Gene Set that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1

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Dilated Cardiomyopathy Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Dilated Cardiomyopathy Gene Set that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN

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MYOFIBRILLAR MYOPATHY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL MYOFIBRILLAR MYOPATHY NGS PANEL that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3

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MUSCULAR DYSTROPHY, EMERY-DREYFUSS, TYPE 1 (X- LINKED ) Panel

Spain.

By Laboratorio de Genetica Clinica SL MUSCULAR DYSTROPHY, EMERY-DREYFUSS, TYPE 1 (X- LINKED ) that also includes the following genes: EMD FHL1

More info about this panel

MYOFIBRILLAR MYOPATHY Panel

Spain.

By Laboratorio de Genetica Clinica SL MYOFIBRILLAR MYOPATHY that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3

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FAMILIAL HYPERTROPHIC CARDIOMYOPATHY: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL HYPERTROPHIC CARDIOMYOPATHY: NGS PANEL that also includes the following genes: MRPL3 SCN5A TCAP KLF10 TNNC1 TNNI3 TNNT2 TPM1 TTN VCL

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

Spain.

By Reference Laboratory Genetics Myofibrillar Myopathy, Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3

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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

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Emery-Dreifuss Muscular Dystrophy , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Emery-Dreifuss Muscular Dystrophy , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: SYNE2 SYNE1 TMEM43 EMD FHL1 LMNA

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Phosphorus Pan Cardiomyopathy Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TGFB3 TNNC1 TNNI3 TNNT2

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Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2

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Phosphorus Pan Cardiomyopathy Including Rasopathies Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SGCD SLC22A5 BRAF SOS1 SOS2 TAZ

More info about this panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Panel that also includes the following genes: RYR2 SCN10A SCN4B SCN5A SGCD SLC22A5 SNTA1 TAZ TCAP TGFB3

More info about this panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1

More info about this panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SDHA SGCD SLC22A5 BRAF

More info about this panel

Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2

More info about this panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RYR2 SCN10A SCN4B SCN5A SDHA SGCD SLC22A5 SNTA1 TAZ TCAP

More info about this panel

Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 TCAP TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Phosphorus Hypertrophic Cardiomyopathy Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Hypertrophic Cardiomyopathy Panel that also includes the following genes: TCAP TNNC1 TNNI3 TNNT2 TPM1 TTR VCL CACNA1C ACTC1 CAV3

More info about this panel

Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 TCAP TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Phosphorus Hypertrophic Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Hypertrophic Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: TCAP TNNC1 TNNI3 TNNT2 TPM1 TTR VCL CACNA1C ELAC2 ACTC1

More info about this panel

Emery-Dreifuss Muscular Dystrophy: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Emery-Dreifuss Muscular Dystrophy: gene sequencing panel that also includes the following genes: EMD FHL1 LMNA

More info about this panel


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