Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes IPEX SYNDROME 304790 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes IPEX SYNDROME |
R-numbers: R331 Signed-off version 3.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, OMIM:304790 |
R-numbers: R157 Signed-off version 1.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes |
Green in Neonatal diabetesR-numbers: R143 Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, OMIM:304790 (includes Insulin-dependent diabetes mellitus (type I)) |
R-numbers: R15 Signed-off version 6.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790, IPEX, FOXP3 deficiency (IPEX), Immune dysregulation polyendocrinopathy enteropathy X-linked syndrome, Autoimmune enteropathy, early onset diabetes, hyroiditis hemolytic anemia, thrombocytopenia, eczema, elevated IgE, IgA, Diseases of Immune Dysregulation |