A mutation in ATRIP, ATRIP-TREX1, TREX1 (ATR interacting protein| ATRIP-TREX1 readthrough| three prime repair exonuclease 1), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations