ALAS2

5'-aminolevulinate synthase 2
OMIM: 301300
PanelMode of inheritanceDetails
6 panels
R-numbers: R237
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, Anemia, sideroblastic, X-linked, 300751
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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)
R-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
R-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 anaemia
R-numbers: R92
Signed-off version 1.2
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
R-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