QARS gene related symptoms and diseases
All the information presented here about the QARS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to QARS gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Uncommon - Between 30% and 50% cases |
Low-set, posteriorly rotated ears | Uncommon - Between 30% and 50% cases |
Cerebellar vermis atrophy | Uncommon - Between 30% and 50% cases |
Cortical gyral simplification | Uncommon - Between 30% and 50% cases |
Agitation | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with QARS gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- CNS hypomyelination
- Progressive microcephaly
- Cerebral visual impairment
- Status epilepticus
- Hypotelorism
- Sloping forehead
- Narrow forehead
- Focal-onset seizure
And 18 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to QARS gene
Here you will find a list of rare diseases related to the QARS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DIFFUSE CEREBRAL AND CEREBELLAR ATROPHY-INTRACTABLE SEIZURES-PROGRESSIVE MICROCEPHALY SYNDROME
Description
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome is a rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.
Most common symptoms of DIFFUSE CEREBRAL AND CEREBELLAR ATROPHY-INTRACTABLE SEIZURES-PROGRESSIVE MICROCEPHALY SYNDROME
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Low-set ears
More info about DIFFUSE CEREBRAL AND CEREBELLAR ATROPHY-INTRACTABLE SEIZURES-PROGRESSIVE MICROCEPHALY SYNDROME
MICROCEPHALY-SHORT STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME
Description
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.
More info about MICROCEPHALY-SHORT STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME
SOURCES: ORPHANET
Search interest in QARS
Potential gene panels for QARS gene
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel
![](/img/flags/United-states.png)
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations that also includes the following genes: SHH STIL SIX3 TUBA8 SLC25A19 DEAF1 ARFGEF2 RAB3GAP1 CENPJ NDE1
More info about this panel![](/img/flags/United-states.png)
Epilepsy Advanced Sequencing and CNV Evaluation Panel
![](/img/flags/United-states.png)
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5
More info about this panel![](/img/flags/United-states.png)
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel
![](/img/flags/United-states.png)
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC9A6 SIK1
More info about this panel![](/img/flags/United-states.png)
NGS Epilepsy/Seizure Panel Panel
![](/img/flags/United-states.png)
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel![](/img/flags/United-states.png)
Microcephaly Sequencing Panel Panel
![](/img/flags/United-states.png)
By Genetic Services Laboratory University of Chicago Microcephaly Sequencing Panel that also includes the following genes: STIL SLC2A1 SLC9A6 PLK4 CDKL5 TCF4 UBE3A WWOX RAB18 CRIPT
More info about this panel![](/img/flags/United-states.png)
Microcephaly Deletion/Duplication Panel Panel
![](/img/flags/United-states.png)
By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18
More info about this panel![](/img/flags/United-states.png)
CHOP Epilepsy Panel Panel
![](/img/flags/United-states.png)
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC6A8 SPTAN1
More info about this panel![](/img/flags/United-states.png)
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel
![](/img/flags/United-states.png)
By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5
More info about this panel![](/img/flags/United-states.png)
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
![](/img/flags/United-states.png)
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panel![](/img/flags/United-states.png)
Mental retardation - different panels Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Neurogenetic Disorders - panels Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Epileptic Encephalopathy Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By MGZ Medical Genetics Center Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SGCE SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Epilepsy and Mitochondrial Encephalopathy Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Brain Malformations / Neuronal Migration Disorders Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Epilepsy Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Centogene AG - the Rare Disease Company
This panel specifically test the QARS gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
AllNeuro panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Invitae Epilepsy Panel Panel
![](/img/flags/United-states.png)
By Invitae Invitae Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SGCE SLC2A1 SLC35A2 SLC6A1
More info about this panel![](/img/flags/United-states.png)
Early-Onset Epileptic Encephalopathy NGS Panel Panel
![](/img/flags/United-states.png)
By Fulgent Genetics Fulgent Genetics Early-Onset Epileptic Encephalopathy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC25A12
More info about this panel![](/img/flags/United-states.png)
Comprehensive Epilepsy NGS Panel Panel
![](/img/flags/United-states.png)
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel![](/img/flags/United-states.png)
QARS Panel
![](/img/flags/United-states.png)
By Fulgent Genetics Fulgent Genetics
This panel specifically test the QARS gene.
More info about this panel![](/img/flags/United-states.png)
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HSPD1 PRPH2 BGN CALM2