ASXL2 gene related symptoms and diseases

All the information presented here about the ASXL2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ASXL2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Recurrent fractures Very Common - Between 80% and 100% cases
Elevated hepatic transaminase Very Common - Between 80% and 100% cases
Low-set, posteriorly rotated ears Very Common - Between 80% and 100% cases
Feeding difficulties in infancy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ASXL2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Autistic behavior
  • Poor speech
  • Long face
  • Highly arched eyebrow
  • Broad nasal tip
  • Retrognathia
  • Nevus
  • Febrile seizures

And 29 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ASXL2 gene

Here you will find a list of rare diseases related to the ASXL2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.



Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016).

Most common symptoms of SHASHI-PENA SYNDROME; SHAPNS

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis



Potential gene panels for ASXL2 gene

ASXL2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ASXL2 gene.

More info about this panel
United States.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

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