Clinical Domain Working Groups
X-linked Inherited Retinal Disease Variant Curation Expert PanelMembership
1. Establish a X-linked Retinal Diseases Expert Panel to address inherited retinal disease genes with an X-linked inheritance pattern (RPGR, CHM, RS1, RP2, OFD1, NDP, and CACNA1F).
2. Develop Disease and Gene Specific Variant Curation Guidelines. The guidelines for clinical interpretation of genomic sequence variants published American College of Medical Genetics (ACMG) and the Association for Molecular Pathology (AMP) are not disease or gene or variant specific. We will develop appropriate guidelines to use to curate variants in the Inherited Retinal Disease Genes proposed
3. Apply the Specifications to Curate Variants in Inherited Retinal Disease Genes. To ensure a comprehensive assessment of patient variants we will work with our experts and other diagnostic laboratories to collect and submit to the ClinVar public repository variant and clinical reports held in the private laboratory collections.
4. Participate in ClinGen working groups. We will participate actively in the Ocular Clinical Domain Working Group, the Inherited Retinal Diseases Gene Working Group, the Sequence Variant Interpretation Working Group, the Biocurator Working Group, the Education, Coordination and Training Working Group, and the monthly ClinGen Scientific webinar.
In summary, at the completion of the proposed work, we will have established variant curation rules that can be applied for all X- linked IRD genes, completed the curation of these IRD genes, and established a framework that can be modified and applied to other genes affecting inherited retinal disease.
Expert Panel Status
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.