Targeted gene under study

OMIM# 613931
ORPHA 284339


In 2017, Lardelli et al. published the first report of pontocerebellar hypoplasia type 7 (PCH7) caused by biallelic variants in the TOE1 gene in 13 individuals from 11 families. All these patients had developmental delay and hypoplasia of the pons and cerebellum, in addition to variable occurrence of corpus callosum hypoplasia, truncal hypotonia with appendicular hypertonia, seizures, and disorders of sex development (DSD). Since the initial description, only three other individuals have been identified in the literature, including the only one described to date without PCH, suggesting that some individuals may have a phenotype other than PCH7. We have collected 22 more individuals from 15 families. Our aim is to identify new individuals with biallelic variants in TOE1 and to update the current knowledge of the disorder from a clinical, radiological and molecular perspective.

Coordinating clinicians/researchers

Reza Maroofian, PhD –
Andres Moreno De Luca, MD, MBA, DABR –


Department of Neuromuscular Disorders, Department of Clinical and Experimental Epilepsy, University College of London, London

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