Targeted gene(s)/phenotype under study

Gene: SNX13   


We have identified two siblings with a homozygous truncating variant in SNX13, which is not yet known in human pathology. However, SNX13 is known to interact with SNX14, which is involved in a neurodevelopmental phenotype.  Our patients have striking similarities with patients having SNX14 recessive variants with ataxia, cerebellar atrophy, intellectual disability, coarse facial features and hearing impairment. Functional studies are underway for the variant identified in our patient. We aim to find other families with SNX13 recessive variants to confirm the pathogenicity of the variant in our family and further delineate this genetic disease.

Coordinating clinicians/researchers 

Dr Sandra Whalen



Clinical Genetics Department
Armand Trousseau Hospital,
APHP, Paris

Specific requirements beyond clinical data and genotype data sharing

  • Re-analysis of DNA samples : Skin biobsy if possible
  • Resampling of patients : If necessary
  • Linked to a translational/basic research project? No