| Panel | Mode of inheritance | Details |
|---|---|---|
1 panel | ||
R-numbers: R15 Signed-off version 9.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Immunodysregulation with variable immunodeficiency and autoimmunity, OMIM:621233, Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, OMIM:621234 |