ALPL

alkaline phosphatase, liver/bone/kidney
OMIM: 171760, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green ALPL in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.9
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • hypophosphatasia
    • skeletal dysplasias
    • skeletal dysplasias
    • Osteogenesis Imperfecta and Decreased Bone Density

    Green ALPL in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.416

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hypophosphatasia, adult 146300
    • Hypophosphatasia, childhood 241510
    • Hypophosphatasia, infantile 241500
    • Odontohypophosphatasia 146300

    Green ALPL in Inborn errors of metabolism


    Version 2.12
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Hypophosphatasia, adult 146300
    • Hypophosphatasia, childhood 241510
    • Hypophosphatasia, infantile241500
    • Odontohypophosphatasia 146300

    Green ALPL in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HYPOPHOSPHATASIA

    Green ALPL in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.9
    Signed off v.2.2 on 13 Feb 2020

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • hypophosphatasia

    Green ALPL in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.6
    Signed off v.2.2 on 13 Feb 2020

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    • Hypophosphatasia

    Green ALPL in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HYPOPHOSPHATASIA 241500

    Green ALPL in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.102
    Signed off v.2.2 on 13 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypophosphatasia, adult 146300 AD, AR
    • Hypophosphatasia, childhood 241510 AR
    • Hypophosphatasia, infantile 241500 AR
    • Odontohypophosphatasia 146300 AD, AR
    Tags
    • drug-indication

    Amber ALPL in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.135
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Hypophosphatasia, infantile, 241500
    • Hypophosphatasia, childhood, 241510
    • Odontohypophosphatasia, 146300
    • Hypophosphatasia, adult, 146300

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


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

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

    Green ALPL in Severe Paediatric Disorders


    Version 1.6

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hypophosphatasia, childhood, 241510
    • Hypophosphatasia, adult, 146300
    • Hypophosphatasia, infantile, 241500
    • Odontohypophosphatasia, 146300