Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

In prenatal ES, reliance on HPO-driven gene selection significantly lowers diagnostic yield compared with clinical ES, with nearly one-third of primary findings and most incidental findings missed. PanelApp represents a pragmatic alternative, preserving a high primary diagnostic yield while limiting incidental findings.

Authors

Laura M. Gort
Gemma Arca (ORCID: https://orcid.org/0000-0003-3647-0656)
Stiven Ernesto Sinisterra‐Díaz (ORCID: https://orcid.org/0000-0001-6971-2098)
A. Borrell
Victoria Ardiles‐Ruesjas (ORCID: https://orcid.org/0009-0006-1887-3119)
Laia Rodriguez‐Revenga
Alfons Nadal
Montse Pauta

Institutions

Instituto de Salud Carlos III (ES)
Fundación Valle del Lili (CO)
Centre for Biomedical Network Research on Rare Diseases (ES)
Hospital Clínic de Barcelona (ES)
Fundació Clínic per a la Recerca Biomèdica (ES)
Universitat de Barcelona (ES)
Icesi University (CO)

Publication Details

Journal: Prenatal Diagnosis
Published: 2026-01-04
DOI: https://doi.org/10.1002/pd.70066
Citations: 2
Primary Topic: Genomics and Rare Diseases
Type: article
Field-Weighted Citation Impact: 61.86

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article

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Laura M. Gort, Gemma Arca, Stiven Ernesto Sinisterra‐Díaz, A. Borrell et al.

Jan 4, 2026

2 citations

Prenatal Diagnosis

Genomics and Rare Diseases

61.86

article

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Laura M. Gort, Gemma Arca, Stiven Ernesto Sinisterra‐Díaz, A. Borrell, Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Alfons Nadal, Montse Pauta

January 4, 2026article en

2 citations

Abstract

In prenatal ES, reliance on HPO-driven gene selection significantly lowers diagnostic yield compared with clinical ES, with nearly one-third of primary findings and most incidental findings missed. PanelApp represents a pragmatic alternative, preserving a high primary diagnostic yield while limiting incidental findings.

Prenatal Diagnosis

Instituto de Salud Carlos III (ES), Fundación Valle del Lili (CO), Centre for Biomedical Network Research on Rare Diseases (ES), Hospital Clínic de Barcelona (ES), Fundació Clínic per a la Recerca Biomèdica (ES), Universitat de Barcelona (ES), Icesi University (CO)

Openalex Percentile: Top 0%

Genomics and Rare Diseases

61.86

DOI Open Access PDF OpenAlex

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Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists — Laura M. Gort, Gemma Arca, et al. · Prenatal Diagnosis (2026) | TGRS Research Map | TGRS