MTMR14 gene related symptoms and diseases
All the information presented here about the MTMR14 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MTMR14 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Thin ribs | Very Common - Between 80% and 100% cases |
| Delayed gross motor development | Very Common - Between 80% and 100% cases |
| EMG: myopathic abnormalities | Very Common - Between 80% and 100% cases |
| Easy fatigability | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MTMR14 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Pyloric stenosis
- Ophthalmoparesis
- Skeletal muscle hypertrophy
- Calf muscle hypertrophy
- Large for gestational age
- Mildly elevated creatine phosphokinase
- Generalized amyotrophy
- Muscle fibrillation
And 44 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MTMR14 gene
Here you will find a list of rare diseases related to the MTMR14. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY
Alternate names
AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY Is also known as myotubular myopathy, autosomal dominant, ad-cnm, myopathy, centronuclear, autosomal dominant
Description
Autosomal dominant centronuclear myopathy (AD-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 DOMINANT CENTRONUCLEAR MYOPATHY
- Global developmental delay
- Generalized hypotonia
- Scoliosis
- Muscle weakness
- Pain
More info about AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY
Search interest in MTMR14
Potential gene panels for MTMR14 gene
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.
MTMR14. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MTMR14 gene.
More info about this panel Spain.
Centronuclear myopathy AD (sequence analysis of MTMR14 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MTMR14 gene.
More info about this panel Portugal.
Congenital myopathy (NGS panel of 19 genes) Panel
Portugal.
By CGC Genetics Congenital myopathy (NGS panel of 19 genes) that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 ACTA1 CCDC78 SELENON CFL2 CNTN1 MAMLD1
More info about this panel Portugal.
Congenital myopathy (NGS panel of 19 genes) Panel
Portugal.
By CGC Genetics Congenital myopathy (NGS panel of 19 genes) that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 ACTA1 CCDC78 SELENON CFL2 CNTN1 MAMLD1
More info about this panel Portugal.
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.
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.
Centronuclear myopathy type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MTMR14 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Congenital and Distal Myopathies Panel Panel
Germany.
By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3
More info about this panel Germany.
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.
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.
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.
MTMR14 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MTMR14 gene.
More info about this panel United States.
Autosomal dominant centronuclear myopathy Panel
Spain.
By Bioarray
This panel specifically test the MTMR14 gene.
More info about this panel Spain.
CENTRONUCLEAR MYOPATHY NGS PANEL Panel
Spain.
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 panel Spain.
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
Spain.
By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel Spain.
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