SELENON gene related symptoms and diseases
All the information presented here about the SELENON 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 SELENON gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Failure to thrive | Common - Between 50% and 80% cases |
| High palate | Common - Between 50% and 80% cases |
| Scoliosis | Common - Between 50% and 80% cases |
| Myopathy | Common - Between 50% and 80% cases |
| Generalized muscle weakness | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with SELENON gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Waddling gait
- Generalized hypotonia
- Short stature
Not very common - Between 30% and 50% cases
- Cardiomyopathy
- Respiratory insufficiency
- Nocturnal hypoventilation
- Flexion contracture
- Skeletal muscle atrophy
And 129 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SELENON gene
Here you will find a list of rare diseases related to the SELENON. 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
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
CLASSIC MULTIMINICORE MYOPATHY
Alternate names
CLASSIC MULTIMINICORE MYOPATHY Is also known as classic multiminicore disease, classic mmd
Most common symptoms of CLASSIC MULTIMINICORE MYOPATHY
- Short stature
- Generalized hypotonia
- Scoliosis
- Failure to thrive
- High palate
More info about CLASSIC MULTIMINICORE MYOPATHY
SOURCES: ORPHANET
DESMIN-RELATED MYOPATHY WITH MALLORY BODY-LIKE INCLUSIONS
Alternate names
DESMIN-RELATED MYOPATHY WITH MALLORY BODY-LIKE INCLUSIONS Is also known as early-onset desmin-related myopathy
More info about DESMIN-RELATED MYOPATHY WITH MALLORY BODY-LIKE INCLUSIONS
SOURCES: ORPHANET
Search interest in SELENON
Potential gene panels for SELENON 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 United States.
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.
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 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.
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 United States.
Congenital Muscular Dystrophy Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Congenital Muscular Dystrophy that also includes the following genes: RYR1 TCAP SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2 COL6A3
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 Muscular Dystrophy Deletion/Duplication Analysis Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Muscular Dystrophy Deletion/Duplication Analysis that also includes the following genes: RYR1 RXYLT1 SELENON SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
More info about this panel United States.
Congenital Muscular Dystrophy Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Muscular Dystrophy Sequencing Panel that also includes the following genes: RYR1 RXYLT1 SELENON SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
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 with Prominent Contractures Deletion/Duplication Analysis Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis that also includes the following genes: RYR1 SELENON SYNE2 SYNE1 COL6A1 COL6A2 COL6A3 TMEM43 KLHL40 EMD
More info about this panel United States.
Congenital Myopathy with Prominent Contractures Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Myopathy with Prominent Contractures Sequencing Panel that also includes the following genes: RYR1 SELENON SYNE2 SYNE1 COL6A1 COL6A2 COL6A3 TMEM43 KLHL40 EMD
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.
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 United States.
Multiminicore Disease Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Multiminicore Disease Sequencing Panel that also includes the following genes: RYR1 SELENON
More info about this panel United States.
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 Spain.
SEPN1, RYR1. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica SEPN1, RYR1. NextGeneDx.Complete sequencing by NGS that also includes the following genes: RYR1 SELENON
More info about this panel Spain.
SEPN1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SELENON gene.
More info about this panel Spain.
Spinal muscular dystrophy, rigid spine 1 (sequence analysis of SEPN1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SELENON gene.
More info about this panel Portugal.
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 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.
Selenoprotein N, 1 via SELENON/SEPN1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SELENON gene.
More info about this panel United States.
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.
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 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.
SEPN1-related congenital fiber-type disproportion Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the SELENON gene.
More info about this panel Germany.
SELENON/SEPN1-Related Myopathy Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the SELENON gene.
More info about this panel Germany.
SELENON/SEPN1-Related Congenital Fiber-Type Disproportion Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the SELENON gene.
More info about this panel Germany.
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 Germany.
SELENON/SEPN1-Related Multiminicore Disease Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the SELENON gene.
More info about this panel Germany.
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 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.
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 Germany.
Myopathy with fiber-type disproportion Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SELENON 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.
Rigid spine muscular dystrophy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SELENON gene.
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.
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 Germany.
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 Estonia.
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 Multiminicore Disease Panel Panel
United States.
By Invitae Invitae Multiminicore Disease Panel that also includes the following genes: RYR1 SELENON
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.
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 United States.
DYSTROPHIES, CONGENITAL MUSCULAR Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DYSTROPHIES, CONGENITAL MUSCULAR that also includes the following genes: SELENON FKRP POMGNT1 POMT2 COL6A1 COL6A2 COL6A3 FKTN ITGA7 LAMA2
More info about this panel Spain.
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 Spain.
Rigid Spine with Muscular Dystrophy Type 1 (RSMD1): SEPN1 Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the SELENON gene.
More info about this panel United States.
Rigid Spine with Muscular Dystrophy Type 1 (RSMD1): SEPN1 Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the SELENON gene.
More info about this panel United States.
Congenital Muscular Dystrophy: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Muscular Dystrophy: Deletion/Duplication Panel that also includes the following genes: RYR1 TCAP RXYLT1 SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
More info about this panel United States.
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 United States.
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 United States.
Congenital Muscular Dystrophy: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Muscular Dystrophy: Sequencing Panel that also includes the following genes: RYR1 TCAP RXYLT1 SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
More info about this panel United States.
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 United States.
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 United States.
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 United States.
SEPN1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SELENON gene.
More info about this panel United States.
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 Finland.
LGMD and Congenital Muscular Dystrophy Panel Panel
Finland.
By Blueprint Genetics LGMD and Congenital Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel Finland.
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.
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 Finland.
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 Finland.
Congenital fiber-type disproportion myopathy Panel
Spain.
By Bioarray
This panel specifically test the SELENON gene.
More info about this panel Spain.
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 Spain.
MYOPATHY CONGENITAL MULTICORE WITH EXTERNAL OPHTALMOPLEGIA (MULTIMINICORE) Panel
Spain.
By Laboratorio de Genetica Clinica SL MYOPATHY CONGENITAL MULTICORE WITH EXTERNAL OPHTALMOPLEGIA (MULTIMINICORE) that also includes the following genes: RYR1 SELENON
More info about this panel Spain.
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 Spain.
Congenital Muscular Dystrophies, Panel Massive Sequencing (NGS) 12 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Muscular Dystrophies, Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: SELENON FKRP POMGNT1 POMT2 COL6A1 COL6A2 COL6A3 FKTN ITGA7 LAMA2
More info about this panel Spain.
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 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.
Congenital Central Core Myopathy , Panel Massive Sequencing (NGS) RYR1, MYH7, SELENON, TPM3 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Central Core Myopathy , Panel Massive Sequencing (NGS) RYR1, MYH7, SELENON, TPM3 Genes that also includes the following genes: RYR1 TPM3 SELENON MYH7
More info about this panel Spain.
Multiminicore Disease: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Multiminicore Disease: gene sequencing panel that also includes the following genes: RYR1 SELENON
More info about this panel Canada.
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