Curating the Clinical Genome 2024 ePoster Gallery-Updates from the ClinGen X-linked Inherited Retinal Disease

Updates from the ClinGen X-linked Inherited Retinal Disease

Pdf Summary

The X-linked Inherited Retinal Diseases (IRD) Variant Curation Expert Panel (VCEP) aims to improve molecular diagnoses for patients by ensuring consistent interpretation of variants in seven X-linked genes. Specific rules have been developed for genes like RPGR, which causes a significant percentage of dystrophies. Challenges unique to IRDs and X-linked inheritance have been identified, leading to refined guidelines for variant interpretation. The panel focuses on males for specific designations due to limited female carrier phenotypes. To enhance specificity, diagnostic tests like electroretinograms are required, narrowing down eligible probands. Gene-specific adaptations are being implemented to maximize the utility of evidence and improve variant interpretation in genes like RPGR, RS1, and CHM.<br /><br />The document highlights the development and adaptation of ClinGen practices for variant assessment in IRD genes to guide patient eligibility for genetic therapies. It emphasizes the importance of accurate variant interpretation to improve diagnoses and potential treatment options for patients with IRDs. Over 100 genes are associated with IRDs, and the expert panel's efforts aim to enhance specificity and accuracy in variant interpretation for improved patient care.

Keywords

X-linked Inherited Retinal Diseases

Variant Curation Expert Panel

molecular diagnoses

RPGR gene

dystrophies

IRDs

X-linked inheritance

variant interpretation

electroretinograms

genetic therapies