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Targeted gene(s)/phenotype under study
SLC12A2
Abstract
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
a.mcneill@sheffield.ac.uk
Institution
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)