Thematic Area:  Alport Syndrome

The following guidance documents have been adopted based on standardized reviews and are followed in all ERKNet centers:

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Eur J Hum Genet. 2021 Apr 15. doi: 10.1038/s41431-021-00858-1. Online ahead of print


Expert consensus guidelines for the genetic diagnosis of Alport syndrome

Pediatr Nephrol. 2019 Jul;34(7):1175-1189. doi: 10.1007/s00467-018-3985-4. Epub 2018 Jul 9.