TARS2 gene related symptoms and diseases
All the information presented here about the TARS2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TARS2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Generalized hypotonia | Very Common - Between 80% and 100% cases |
| Hypoplasia of the corpus callosum | Very Common - Between 80% and 100% cases |
| Hypertonia | Very Common - Between 80% and 100% cases |
| Muscular hypotonia of the trunk | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TARS2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hepatic steatosis
- Increased serum lactate
- Limb hypertonia
Rare diseases associated to TARS2 gene
Here you will find a list of rare diseases related to the TARS2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 21
Alternate names
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 21 Is also known as coxpd21
Description
Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.
Most common symptoms of COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 21
- Global developmental delay
- Generalized hypotonia
- Hypoplasia of the corpus callosum
- Hypertonia
- Muscular hypotonia of the trunk
More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 21
Search interest in TARS2
Potential gene panels for TARS2 gene
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4
More info about this panel United States.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
Epilepsy and Mitochondrial Encephalopathy Panel
Germany.
By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Mitochondrial Diseases Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12
More info about this panel Germany.
Mitochondrial Encephalopathy Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Encephalopathy that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC25A12 SLC25A3
More info about this panel Germany.
Epilepsy Panel
Germany.
By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Combined oxidative phosphorylation deficiency type 21 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TARS2 gene.
More info about this panel Germany.
TARS2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TARS2 gene.
More info about this panel United States.
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