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The full phenotypic spectrum is unknown. The purpose of this study was to characterize known and novel pre\u2010 and postnatal phenotypes associated with <jats:italic>GREB1L<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We solicited cases from the Fetal Sequencing Consortium, screened a population\u2010based genomic database, and conducted a comprehensive literature search to identify disease cases associated with <jats:italic>GREB1L<\/jats:italic>. We present a detailed phenotypic spectrum and molecular changes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>One hundred twenty\u2010seven individuals with 51 unique pathogenic or likely pathogenic <jats:italic>GREB1L<\/jats:italic> variants were identified. 24 (47%) variants were associated with isolated kidney anomalies, 19 (37%) with anomalies of multiple systems, including one case of hypoplastic left heart syndrome, five (10%) with isolated sensorineural hearing loss, two (4%) with isolated uterine agenesis; and one (2%) with isolated tetralogy of Fallot.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic>GREB1L<\/jats:italic> may cause complex congenital heart disease (CHD) in humans. Clinicians should consider <jats:italic>GREB1L<\/jats:italic> testing in the setting of CHD, and cardiac screening in the setting of <jats:italic>GREB1L<\/jats:italic> variants.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6527","type":"journal-article","created":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T16:05:03Z","timestamp":1706544303000},"page":"343-351","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["The expanded spectrum of human disease associated with <i>GREB1L<\/i> likely includes complex congenital heart disease"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-2067-7784","authenticated-orcid":false,"given":"Emily","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Gynecology and Obstetrics Johns Hopkins University School of Medicine  Baltimore Maryland 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