Targeted gene(s)/phenotype under study



De novo heterozygous variants in SLC12A2 affecting exon 21 are associated with non-syndromal deafness.  De novo variants in other parts of the gene are associated with a neurodevelopmental disorder.  Bi-allelic variants are associated with a more severe phenotype.  We wish to identify further individuals with SLC12A2 variants to confirm the phenotypic spectrum. 

Coordinating clinicians/researchers

Dr. Alisdair McNeill   


University of Sheffield, United Kingdom

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: Yes (possible functional testing of variants in Delpire lab)