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.

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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

SOURCES: ORPHANET OMIM


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

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

GPT2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GPT2 gene.

More info about this panel


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