Features include always present findings: Spastic tetraplegia, Global developmental delay, Schizencephaly, and Subcortical heterotopia and others; and common findings: Bilateral tonic-clonic seizure, Esotropia, and Focal-onset seizure. 13 total HPO annotations.

COL4A2 encodes collagen type IV alpha 2 chain (1,712 aa). Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen Highest expression in Artery Aorta (566.5 TPM) and Artery Coronary (522.9 TPM).

Porencephaly 2 is associated with mutations in the COL4A2 gene on chromosome 13.

The COL4A2 protein participates in Tropocollagen type IV alpha-1X2 alpha-2 pathway.

COL4A2 is classified as a druggable target (Druggable Genome category) with score 17.4.

Genetic testing for COL4A2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for porencephaly 2 has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 3 common features.

No clinical trials have been registered for porencephaly 2.

181 publications have been identified in PubMed for porencephaly 2. Research spans Basic Science / Preclinical (34%), Epidemiology / Natural History (30%), and Review / Meta-Analysis (13%).