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Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic Diagnostics.

American journal of medical genetics. Part A - 1 Apr 2026

Wedge Eileen, Rasmussen Andreas Ørslev, Borgwardt Line, Cowland Jack Bernard, Grønbæk Kirsten, Issa Issa Ismail, Friis Lone Smidstrup, Andersen Mette Klarskov, Hvidbjerg Marie Skov, Jelsig Anne Marie

Abstract excerpt

Whilst biallelic variants in RTEL1 are an established cause of telomere biology disorder (TBD), the significance of heterozygous variants has been more challenging to establish. In this nationwide analysis, we describe 18 individuals with heterozygous pathogenic RTEL1 variants from seven families. All were identified during routine clinical genetic investigation for a variety of indications. Each family carried a...

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PMID: 41332233
DOI: 10.1002/ajmga.70015

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RTEL1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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