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.
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
Search interest in COG2
Potential gene panels for COG2 gene
Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel
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 panelInvitae Congenital Disorders of Glycosylation Panel Panel
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 panelCOG2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COG2 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ITIH4 HADH PDE6B LARS2 AGPS TJP2 RYR2