Targeted gene(s)/phenotype under study :
- RBM10 (OMIM 300080)
Loss of function variants in RBM10 are well known to cause TARP-syndrome, a severe X-linked recessive syndrome with malformations, global developmental delay, and early death of affected males. Missense variants in the RBM10-gene have so far not been proven to be pathogenic. We have collected a cohort of families with RBM10-variants – missense variants, splice variants and loss of function variants – and we are conducting a PhD study of the genotype-phenotype correlation and supporting functional studies.
We welcome further cases of rare variants in the RBM10-gene – all types of variants are included.
Coordinating clinician/researcher: Christina Fagerberg
Department of Clinical Genetics
Odense University Hospital
Contact : email@example.com
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples : N
- Resampling of patients : Y
- Linked to a translational/basic research project? Y