Targeted gene/syndrome under study

SCAF4 (OMIM * 616023, ORPHA: 528084)


Only in 2020, mostly truncating variants in SCAF4 have been reported in individuals with variable neurodevelopmental phenotypes and variable additional aspects (e.g. renal anomalies) (PMID: 32730804). Since our initial report, we have assembled a number of further cases. We would like to increase the cohort for a comprehensive follow-up study to better characterize the molecular and clinical spectrum. For this we are searching for further cases with variants in SCAF4. Clinical and mutational data is collected in table format.

Coordinating clinicians/researchers

Christiane Zweier –


Department of Human Genetics, Inselspital, University Hospital, Bern, Switzerland

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples: No
  • Resampling of patients: No
  • Linked to a translational/basic research project: No