VARS2 gene related symptoms and diseases
All the information presented here about the VARS2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to VARS2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Generalized hypotonia | Very Common - Between 80% and 100% cases |
| Microcephaly | Very Common - Between 80% and 100% cases |
| Ataxia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with VARS2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Muscle weakness
- Abnormal facial shape
- Ptosis
- Myoclonus
- Ophthalmoplegia
- External ophthalmoplegia
- Progressive external ophthalmoplegia
Rare diseases associated to VARS2 gene
Here you will find a list of rare diseases related to the VARS2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20
Alternate names
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20 Is also known as coxpd20
Description
Combined oxidative phosphorylation defect type 20 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I).
Most common symptoms of COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Ataxia
More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20
Search interest in VARS2
Potential gene panels for VARS2 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 20 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the VARS2 gene.
More info about this panel Germany.
VARS2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the VARS2 gene.
More info about this panel United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CLEC12B SSX1