ALAS2

5'-aminolevulinate synthase 2
OMIM: 301300, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green ALAS2 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Anemia, sideroblastic, 1, MIM# 300751

    Green ALAS2 in Mendeliome


    Version 1.2374

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Anaemia, sideroblastic, 1, MIM# 300751
    • Protoporphyria, erythropoietic, X-linked, MIM# 300752

    Green ALAS2 in Photosensitivity Syndromes


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.8

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Protoporphyria, erythropoietic, X-linked 300752

    Green ALAS2 in Haem degradation and bilirubin metabolism defects


    Level 2: Metabolic disorders
    Version 0.17

    Component of the following Super Panels:

  • Liverome Superpanel
  • Metabolic Disorders Superpanel
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Protoporphyria, erythropoietic, X-linked, 300752
    • Anemia, sideroblastic, X-linked, 300751

    Green ALAS2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Anemia, sideroblastic, X-linked

    Green ALAS2 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.29

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • North West GLH
    • London South GLH
    • Victorian Clinical Genetics Services
    Phenotypes
    • Anaemia, sideroblastic, 1, MIM# 300751

    Green ALAS2 in Metal Metabolism Disorders


    Level 2: Metabolic disorders
    Version 0.47

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS Genomic Medicine Service
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • 300752 Protoporphyria, erythropoietic, X-linked
    • Sideroblastic anaemia - increased serum ferritin
    • 300751 Anemia, sideroblastic, 1

    Green ALAS2 in IBMDx study


    Version 0.35

    review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Anemia, sideroblastic, 1, MIM# 300751

    Red ALAS2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Anaemia, sideroblastic, 1, MIM# 300751
    • Protoporphyria, erythropoietic, X-linked, MIM# 300752