Kidney Week 2025 Early Program - Genetics in Clinical Nephrology-Genetics in Clinical Nephrology Resources

Genetics in Clinical Nephrology Resources

Pdf Summary

This document lists key readings and online tools to support genetics in clinical nephrology, with emphasis on family history, genetic counseling, gene–disease validity, and variant interpretation in chronic kidney disease (CKD).

Four recent recommended articles (2025) cover practical and conceptual foundations: guidance on taking a high-quality family history in CKD care; the principles and practice of genetic counseling specifically for nephrology; an overview of gene–disease relationships relevant to kidney disorders; and discussion of challenges in variant analysis, classification, and interpretation for kidney disease genes.

It then compiles widely used genomic resources, grouped by purpose. <strong>Gene–disease resources</strong> include: GeneReviews (clinically actionable summaries for inherited conditions, including diagnosis/management and counseling), OMIM (curated gene–phenotype compendium), ClinGen (NIH-supported clinical relevance of genes/variants), Orphanet (rare disease terminology and information), Genomics England PanelApp and PanelApp Australia (expert-reviewed virtual diagnostic gene panels by clinical indication), and the Gene Curation Coalition (GenCC), which harmonizes gene-curation efforts and gene–disease validity terminology.

<strong>Variant-level resources</strong> include: ClinVar (public archive of clinically interpreted variants with evidence), HGMD (published disease-associated variants), LOVD (federated locus-specific variant databases), gnomAD (population allele frequencies from large sequencing datasets), DECIPHER (shared genotype–phenotype data with interpretation tools), and interpretation platforms Franklin and VarSome, which aggregate evidence and help apply ACMG/AMP variant classification criteria, often with automated rule suggestions and community/curated inputs.

Overall, the resource list is designed to help clinicians and trainees evaluate inherited kidney disease, select/interpret genetic tests, and counsel patients and families using standardized, evidence-based genomic references.

Keywords

clinical nephrology genetics

chronic kidney disease (CKD)

family history in CKD

genetic counseling nephrology

gene–disease validity

variant interpretation

ACMG/AMP variant classification

ClinVar

gnomAD

ClinGen