Targeted gene under study

SLC19A1, OMIM # 601775


We identified a patient with two heterozygous variants in SLC19A1. This gene has recently been implicated in two case reports of pancytopenia with megaloblastic anemia and neurodevelopmental disorders (NIM # 601775). We are looking for other patients for collaboration and publication.

Coordinating clinicians/researchers

Henri Margot –
Claire Beneteau –


Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, FRANCE

Specific requirements beyond clinical data and genotype data sharing:

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