ATG5 gene related symptoms and diseases
All the information presented here about the ATG5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Table of contents:
Top 5 symptoms and clinical features associated to ATG5 gene
Symptoms // Phenotype | % Cases |
---|---|
Global developmental delay | Very Common - Between 80% and 100% cases |
Ataxia | Very Common - Between 80% and 100% cases |
Nystagmus | Very Common - Between 80% and 100% cases |
Cognitive impairment | Very Common - Between 80% and 100% cases |
Cerebellar hypoplasia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ATG5 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Dysmetria
- Truncal ataxia
- Delayed ability to walk
Rare diseases associated to ATG5 gene
Here you will find a list of rare diseases related to the ATG5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25
Most common symptoms of SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25
- Global developmental delay
- Ataxia
- Nystagmus
- Cognitive impairment
- Cerebellar hypoplasia
More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25
SOURCES: OMIM
Search interest in ATG5
Potential gene panels for ATG5 gene
ATG5 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATG5 gene.
More info about this panel
United States.
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