GPT2 gene related symptoms and diseases
All the information presented here about the GPT2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GPT2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Babinski sign | Very Common - Between 80% and 100% cases |
| Abnormal CNS myelination | Very Common - Between 80% and 100% cases |
| Progressive spasticity | Very Common - Between 80% and 100% cases |
| Drooling | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with GPT2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Severe muscular hypotonia
- Postnatal microcephaly
- Broad-based gait
- Hypotelorism
- Narrow forehead
- Febrile seizures
- Generalized tonic-clonic seizures
- Spastic paraplegia
And 16 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GPT2 gene
Here you will find a list of rare diseases related to the GPT2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
POSTNATAL MICROCEPHALY-INFANTILE HYPOTONIA-SPASTIC DIPLEGIA-DYSARTHRIA-INTELLECTUAL DISABILITY SYNDROME
Most common symptoms of POSTNATAL MICROCEPHALY-INFANTILE HYPOTONIA-SPASTIC DIPLEGIA-DYSARTHRIA-INTELLECTUAL DISABILITY SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about POSTNATAL MICROCEPHALY-INFANTILE HYPOTONIA-SPASTIC DIPLEGIA-DYSARTHRIA-INTELLECTUAL DISABILITY SYNDROME
Search interest in GPT2
Potential gene panels for GPT2 gene
Mental retardation - different panels Panel
Germany.
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 Germany.
Mental retardation, autosomal recessive type 49 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GPT2 gene.
More info about this panel Germany.
GPT2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GPT2 gene.
More info about this panel United States.
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