Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Component of the following Super Panels:
Signed-off version 2.4 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Immunodeficiency 47 300972 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 2.3 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Immunodeficiency 47 |
Green in Primary immunodeficiencyR-numbers: R15 Signed-off version 2.1 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Immunodeficiency 47, 300972, Hepatopathy, leukopenia, low copper, Predominantly Antibody Deficiencies, Immunodeficiency and hepatopathy with or without neurologic features |