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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

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

SOURCES: ORPHANET OMIM

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

United States.

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

QARS gene related symptoms and diseases

Top 5 symptoms and clinical features associated to QARS gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to QARS gene

DIFFUSE CEREBRAL AND CEREBELLAR ATROPHY-INTRACTABLE SEIZURES-PROGRESSIVE MICROCEPHALY SYNDROME

Description

Most common symptoms of DIFFUSE CEREBRAL AND CEREBELLAR ATROPHY-INTRACTABLE SEIZURES-PROGRESSIVE MICROCEPHALY SYNDROME

MICROCEPHALY-SHORT STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

Description

Search interest in QARS

Potential gene panels for QARS gene

Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel

NGS Epilepsy/Seizure Panel Panel

Microcephaly Sequencing Panel Panel

Microcephaly Deletion/Duplication Panel Panel

CHOP Epilepsy Panel Panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

Neurogenetic Disorders - panels Panel

Epileptic Encephalopathy Panel

Epilepsy and Mitochondrial Encephalopathy Panel

Brain Malformations / Neuronal Migration Disorders Panel

Epilepsy Panel

Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Panel

AllNeuro panel Panel

Invitae Epilepsy Panel Panel

Early-Onset Epileptic Encephalopathy NGS Panel Panel

Comprehensive Epilepsy NGS Panel Panel

QARS Panel