ALAS2

5'-aminolevulinate synthase 2
OMIM: 301300
PanelMode of inheritanceDetails
6 panels
R-numbers: R237
Signed-off version 3.0
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
R-numbers: R96
Signed-off version 2.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Protoporphyria, erythropoietic, X-linked OMIM:300752, Anemia, sideroblastic, 1 OMIM:300751, X-linked erythropoietic protoporphyria MONDO:0010420, X-linked sideroblastic anemia 1 MONDO:0020721
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Anemia, sideroblastic, 1, OMIM:300751, Protoporphyria, erythropoietic, X-linked, OMIM:300752
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 3.0
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