COG2 gene related symptoms and diseases

All the information presented here about the COG2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to COG2 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Postnatal microcephaly Very Common - Between 80% and 100% cases
Hypocupremia Very Common - Between 80% and 100% cases
Small pituitary gland Very Common - Between 80% and 100% cases
Abnormal glycosylation Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with COG2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Generalized tonic seizures
  • Diffuse cerebral atrophy
  • Decreased liver function
  • Spastic tetraplegia
  • Global developmental delay
  • Tetraplegia
  • Elevated hepatic transaminase
  • Hepatosplenomegaly

And 4 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to COG2 gene

Here you will find a list of rare diseases related to the COG2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COG2-CDG


Alternate names

COG2-CDG Is also known as cdgiiq, cdg iiq, cog2-related congenital disorder of glycosylation

Most common symptoms of COG2-CDG

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypoplasia of the corpus callosum
  • Cerebral atrophy


More info about COG2-CDG

SOURCES: ORPHANET OMIM


Potential gene panels for COG2 gene

Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 TMEM199 ALG1 ATP6V0A2 COG4

More info about this panel

Invitae Congenital Disorders of Glycosylation Panel Panel

United States.

By Invitae Invitae Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 TRIP11 COG5 ALG9 NGLY1 ALG1 ATP6V0A2

More info about this panel

COG2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COG2 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TSPEAR PAX5 SLC12A5 CD28 AGPAT2 TJP2 WDR81

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more