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.
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)