SPEG gene related symptoms and diseases
All the information presented here about the SPEG gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SPEG gene
Symptoms // Phenotype | % Cases |
---|---|
Generalized hypotonia | Very Common - Between 80% and 100% cases |
Facial palsy | Very Common - Between 80% and 100% cases |
Respiratory insufficiency | Very Common - Between 80% and 100% cases |
Centrally nucleated skeletal muscle fibers | Very Common - Between 80% and 100% cases |
Hip contracture | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SPEG gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Retrognathia
- Motor delay
- Areflexia
- High palate
- Myopathy
- Flexion contracture
- Axial muscle weakness
- Ophthalmoplegia
And 53 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SPEG gene
Here you will find a list of rare diseases related to the SPEG. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY
Alternate names
AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive, myotubular myopathy, autosomal recessive, ar-cnm
Description
Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.
Most common symptoms of AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY
- Intellectual disability
- Generalized hypotonia
- Scoliosis
- Muscle weakness
- Abnormal facial shape
More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY
MYOPATHY, CENTRONUCLEAR, 5; CNM5
Description
Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by Agrawal et al., 2014).For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).
Most common symptoms of MYOPATHY, CENTRONUCLEAR, 5; CNM5
- Generalized hypotonia
- Micrognathia
- Flexion contracture
- High palate
- Motor delay
More info about MYOPATHY, CENTRONUCLEAR, 5; CNM5
SOURCES: OMIM
Search interest in SPEG
Potential gene panels for SPEG gene
Neuromuscular Disorders Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2
More info about this panelNeuromuscular Disorders Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2
More info about this panelCongenital Myopathy Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Congenital Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON
More info about this panelCongenital Myopathy Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Congenital Myopathy Deletion/Duplication Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON
More info about this panelCentronuclear Myopathy Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Centronuclear Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 CCDC78 SPEG DNM2 MTM1 MYF6
More info about this panelCongenital and Distal Myopathies Panel Panel
By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3
More info about this panelCardiovascular Diseases_General Panel Panel
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 panelSkeletal myopathy Panel Panel
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 panelArrhythmia General Panel Panel
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 panelCardiomyopathies General Panel Panel
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 panelSPEG Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SPEG gene.
More info about this panelCardiomyopathy Panel Panel
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 panelLGMD and Congenital Muscular Dystrophy Panel Panel
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 panelComprehensive Muscular Dystrophy / Myopathy Panel Panel
By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN
More info about this panelComprehensive Cardiology Panel Panel
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 panelDilated Cardiomyopathy (DCM) Panel Panel
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 panelCENTRONUCLEAR MYOPATHY NGS PANEL Panel
By Laboratorio de Genetica Clinica SL CENTRONUCLEAR MYOPATHY NGS PANEL that also includes the following genes: RYR1 BIN1 SPEG MAMLD1 MTMR14 DNM2 MTM1 MYF6
More info about this panelCEN4GEN Gastric cancer: Extended gene sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Gastric cancer: Extended gene sequencing Panel that also includes the following genes: BRCA2 SSTR1 STK11 TP53 TRIO TRRAP WNK2 CCNE1 FBXW7 SPEG
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