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Related Experiment Video

Updated: Aug 16, 2025

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
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Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.

Robin-Tobias Jauss1, Sophia Schließke1, Rami Abou Jamra1

  • 1Institute of Human Genetics, University of Leipzig Medical Center, Philipp-Rosenthal-Straße 55, 04103 Leipzig, Germany.

Genes
|December 23, 2022
PubMed
Summary
This summary is machine-generated.

Routine diagnostics can identify rare genetic disorders missed due to limited evidence. This study reports 89 individuals with variants in 77 genes, strengthening the clinical significance of under-reported genes.

Keywords:
epilepsyexome sequencinggene–disorder associationneurodevelopmental disorderroutine diagnostics

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Area of Science:

  • Genetics
  • Rare disease diagnostics
  • Clinical significance of genetic variants

Background:

  • Routine genetic diagnostics often overlook rare disorders with limited evidence.
  • Genes lacking OMIM entries or few public variants may be missed.
  • This study focuses on identifying relevant genes with provisional evidence.

Purpose of the Study:

  • To report 89 individuals with variants in 77 genes with limited public evidence.
  • To confirm or broaden gene-OMIM associations for 21 specific genes.
  • To encourage reporting of gene-disorder associations in routine diagnostics.

Main Methods:

  • Analysis of 89 individuals with variants in 77 genes.
  • Case reports detailing gene-disorder associations.
  • Review of public evidence for clinical significance.

Main Results:

  • Identified variants in 77 genes with limited public evidence.
  • Confirmed or expanded phenotypic spectrum for 21 genes.
  • Strengthened evidence for genes with provisional OMIM associations.

Conclusions:

  • Routine diagnostics can uncover valuable information on gene-disorder associations.
  • Reporting findings supports genes with limited evidence.
  • Encourages clinicians and scientists to contribute to public databases and publications.