ALAS2

5'-aminolevulinate synthase 2
OMIM: 301300, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green ALAS2 in Erythropoietic protoporphyria, mild variant

Level 3: Sun-exposure related conditions
Level 2: Dermatological disorders
Version 1.2

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
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Anemia, sideroblastic, X-linked, 300751
  • Protoporphyria, erythropoietic, X-linked, 300752

Red ALAS2 in Ataxia and cerebellar anomalies - narrow panel


Version 2.65
Latest signed off version: v2.64 (16 Dec 2021)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • 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 Red

    Green ALAS2 in Non-acute porphyrias


    Version 1.21
    Latest signed off version: v1.4 (15 Oct 2020)

    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
    • Other
    • NHS GMS
    Phenotypes
    • Protoporphyria, erythropoietic, X-linked OMIM:300752
    • X-linked erythropoietic protoporphyria MONDO:0010420
    • Anemia, sideroblastic, X-linked OMIM:300751
    • X-linked sideroblastic anemia 1 MONDO:0020721

    Red ALAS2 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.232

    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 Red
    • Illumina TruGenome Clinical Sequencing Services

    Green ALAS2 in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.84

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Eligibility statement prior genetic testing
    • UKGTN
    Phenotypes
    • Anemia, sideroblastic, 1 300751
    Tags
    • missense

    Green ALAS2 in Cutaneous photosensitivity with a likely genetic cause


    Version 1.7
    Latest signed off version: v1.3 (15 Oct 2020)

    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 Review
    Phenotypes
    • Protoporphyria, erythropoietic, X-linked, 300752
    • Anemia, sideroblastic, X-linked, 300751

    Green ALAS2 in Vascular skin disorders


    Version 1.47
    Latest signed off version: v1.3 (15 Oct 2020)

    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 Review
    Phenotypes
    • Protoporphyria, erythropoietic, X-linked, OMIM:300752

    Green ALAS2 in Rare anaemia


    Version 1.18
    Latest signed off version: v1.2 (3 Mar 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • Anemia, sideroblastic, 1, 300751
    • Anemia, sideroblastic, 1 300751
    • 300751 Sideroblastic anaemia 1
    • 300751 Anemia, sideroblastic, 1

    Green ALAS2 in Iron metabolism disorders


    Version 1.33
    Latest signed off version: v1.2 (3 Mar 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • London South GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    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

    Red ALAS2 in Neurodegenerative disorders - adult onset


    Version 2.57
    Latest signed off version: v2.56 (16 Dec 2021)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    • Expert Review Red

    Green ALAS2 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.450

    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
    • Literature
    Phenotypes
    • X-linked dominant protoporphyria (Porphyrias with acute painful photosensitivity)
    • X-linked sideroblastic anaemia (XLSA) (Porphyrias with acute painful photosensitivity)
    • Erythropoietic protoporphyria, mild variant

    Green ALAS2 in Inborn errors of metabolism


    Version 2.105
    Latest signed off version: v2.104 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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
    • London North GLH
    • NHS GMS
    Phenotypes
    • Erythropoietic protoporphyria, mild variant
    • X-linked sideroblastic anaemia (XLSA) (Porphyrias with acute painful photosensitivity)
    • X-linked dominant protoporphyria (Porphyrias with acute painful photosensitivity)

    Red ALAS2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.24
    Latest signed off version: v2.23 (16 Dec 2021)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Expert list
    Phenotypes
    • Anemia, sideroblastic, 1 300751
    • Protoporphyria, erythropoietic, X-linked 300752

    Red ALAS2 in Hereditary ataxia - adult onset


    Version 2.36
    Latest signed off version: v2.35 (16 Dec 2021)

    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 Red
    • Hereditary ataxia v1.148

    Red ALAS2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green ALAS2 in Severe Paediatric Disorders


    Version 1.66

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Anemia, sideroblastic, 1, 300751
    • Protoporphyria, erythropoietic, X-linked, 300752

    Green ALAS2 in NewbornFullV1


    Version 0.1

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green