Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications.These genes are included because they’re linked to serious but preventable or manageable conditions when identified early. Here, we focus on the condition that led to the gene’s inclusion on the list, providing clear, relevant information that supports your clinic. To subscribe to the Gene Scene, contact your local GSL or send a request to info@ambrygen.com. 

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Clinical Phenotype Summary: 

The COL3A1 gene (NM_000090) is located on chromosome 2q32.2 and encodes the collagen, type III, alpha-1 protein. Alterations in this gene are generally inherited in an autosomal dominant fashion in association with Ehlers-Danlos syndrome, vascular type (EDSVASC), also known as Ehlers-Danlos syndrome, type IV. Biallelic alterations in the COL3A1 gene have also been described in patients who present with structural brain anomalies with or without a severe EDSVASC phenotype.