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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 w...

Er moet een landelijk expertisecentrum komen dat gemeenten advies geeft en ondersteunt bij de aanpak van ongewenste buitenlandse inmenging. Daarvoor pleit Christopher Houtkamp, onderzoeker bij Clingen...

Learn more about Vikas Pejaver of the Icahn School of Medicine, such as current roles, education, and experience.

Automated variant interpretation (ACMG classification) · Genet Med 2026

Automated genetic variant classification by LLM following ACMG/AMP/ClinGen · Sci Transl Med 2026

Glomerular diseases are complex conditions, many of which have a genetic basis. However, although some genetic variants can affect glomerular and thereby kidney function, not all identified variants are pathogenic. The process of evaluating genetic and experimental evidence to determine the validity of gene–disease relationships is known as gene curation, and it is critical for the identification of genes that should be examined in diagnostic tests and used to guide clinical management. Gene curation is a key role of the Clinical Genome Resource (ClinGen) and aims to ensure that the evidence underlying asserted gene–disease relationships across a range of diseases is sufficiently robust through comprehensive review of evidence and standardized evaluation by genetic and disease area-specific experts. The ClinGen Glomerulopathy Gene Curation Expert Panel has evaluated 57 gene–disease relationships from 56 genes that have been putatively linked to glomerular phenotypes. This evaluati

Pathogenic variants in SCN1A, SCN2A, SCN3A, SCN8A, and SCN1B have been associated with a spectrum of epilepsy and neurodevelopmental disorders. We cre…

Many glomerular diseases have a genetic basis; however, not all identified variants are pathogenic. This Expert Recommendation from the Clinical Genome Resource (ClinGen) Glomerulopathy Gene Curation ...

Nature Reviews Nephrology, Published online: 21 May 2026; doi:10.1038/s41581-026-01087-9Many glomerular diseases have a genetic basis; however, not all identified variants are pathogenic. This Expert Recommendation from the Clinical Genome Resource (ClinGen) Glomerulopathy Gene Curation Expert Panel describes the outcomes of gene curation efforts to evaluate the evidence underlying asserted gene–disease relationships for 56 genes that have putatively been linked to glomerular diseases.

Nature Reviews Nephrology, Published online: 21 May 2026; doi:10.1038/s41581-026-01087-9Many glomerular diseases have a genetic basis; however, not all identified variants are pathogenic. This Expert Recommendation from the Clinical Genome Resource (ClinGen) Glomerulopathy Gene Curation Expert Panel describes the outcomes of gene curation efforts to evaluate the evidence underlying asserted gene–disease relationships for 56 genes that have putatively been linked to glomerular diseases.

Missense variants represent a large proportion of variants of uncertain significance (VUS) in clinical genetics. The ClinGen framework now enables qua…