Article
Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.
Human genetics - 4 Sept 2026
Hull Sarah, Mero M, Hankey W, Lee K, Sullivan L S, Ayyagari R, Benson M D, Haer-Wigman L, Hufnagel R B, Hussain H M J, Kämpjärvi K, Sieving P A, Wang M, Wang G, Zeitz C, Lewis R A, Chen R, Worley K C
Abstract excerpt
Gene-based therapies are being developed for retinal diseases, including RS1-related X-linked retinoschisis. Therefore it is essential to determine which variants are pathogenic and which are benign when enrolling patients. The Clinical Genome Resource (ClinGen) X-Linked Inherited Retinal Diseases (XLRD) Variant Curation Expert Panel (VCEP) brings together clinician scientists, molecular biologists, and...
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- Humans
- Eye Proteins
- Genetic Variation