| Panel | Mode of inheritance | Details |
|---|---|---|
6 panels | ||
R-numbers: R237 Signed-off version 2.1 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Protoporphyria, erythropoietic, X-linked, 300752, Anemia, sideroblastic, X-linked, 300751 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Erythropoietic protoporphyria, mild variant, X-linked sideroblastic anaemia (XLSA) (Porphyrias with acute painful photosensitivity), X-linked dominant protoporphyria (Porphyrias with acute painful photosensitivity) |
Green in Iron metabolism disordersR-numbers: R96 Signed-off version 1.2 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes 300752 Protoporphyria, erythropoietic, X-linked, 300751 Anemia, sideroblastic, 1, Sideroblastic anaemia - increased serum ferritin |
Green in Non-acute porphyriasR-numbers: R168 Signed-off version 1.4 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Protoporphyria, erythropoietic, X-linked, 300752, Anemia, sideroblastic, X-linked, 300751 |
Green in Rare anaemiaR-numbers: R92 Signed-off version 2.1 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Anemia, sideroblastic, 1, 300751, Anemia, sideroblastic, 1 300751, 300751 Sideroblastic anaemia 1, 300751 Anemia, sideroblastic, 1 |
Green in Vascular skin disordersR-numbers: R326 Signed-off version 1.3 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Protoporphyria, erythropoietic, X-linked, 300752 |