ALAS2

5'-aminolevulinate synthase 2
OMIM: 301300, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels
Green ALAS2 in Erythropoietic protoporphyria, mild variant

Level 3: Sun-exposure related conditions
Level 2: Dermatological disorders
Version 1.3

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
  • Protoporphyria, erythropoietic, X-linked, OMIM:300752
Red ALAS2 in Ataxia and cerebellar anomalies - narrow panel


Version 4.59
Latest signed off version: v4.0 (22 Mar 2023)

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 1.24
    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
    Red ALAS2 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    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 1.118

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Anemia, sideroblastic, 1, OMIM:300751
    Tags
    • missense
    Green ALAS2 in Cutaneous photosensitivity with a likely genetic cause


    Version 3.5
    Latest signed off version: v3.0 (22 Mar 2023)

    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 Vascular skin disorders


    Version 1.63
    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 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    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, OMIM:300751
    Green ALAS2 in Iron metabolism disorders - NOT common HFE mutations


    Version 2.6
    Latest signed off version: v2.0 (22 Mar 2023)

    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
    • Anemia, sideroblastic, 1, OMIM:300751
    Red ALAS2 in Adult onset neurodegenerative disorder


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    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 1.617

    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
    • Anemia, sideroblastic, 1, OMIM:300751
    • Protoporphyria, erythropoietic, X-linked, OMIM:300752
    Green ALAS2 in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • 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
    • Anemia, sideroblastic, 1, OMIM:300751
    • Protoporphyria, erythropoietic, X-linked, OMIM:300752
    Red ALAS2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.168
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review Not set
    Sources
    • Expert list
    Phenotypes
    • Anemia, sideroblastic, 1, OMIM:300751
    • Protoporphyria, erythropoietic, X-linked, OMIM:300752
    Red ALAS2 in Hereditary ataxia with onset in adulthood


    Version 4.31
    Latest signed off version: v4.0 (22 Mar 2023)

    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, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green ALAS2 in Severe Paediatric Disorders


    Version 1.184

    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