PanelApp
  1. Genes and Genomic Entities
  2. ALPL

ALPL

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

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Red ALPL in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.43

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  2 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Hypophosphatasia, adult, MIM# 146300
    • Osteomalacia
    • Parkinsonism

    Green ALPL in Skeletal Dysplasia_Fetal


    Level 2: Skeletal disorders
    Version 0.239

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
    Phenotypes
    • Hypophosphatasia, infantile MIM# 241500
    Tags
    • treatable

    Green ALPL in Craniosynostosis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.72

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • 241500 HYPOPHOSPHATASIA, INFANTILE
    Tags
    • treatable

    Green ALPL in Mendeliome


    Version 1.3512

    		2 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • 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
    • treatable

    Red ALPL in Neurotransmitter Defects


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypophosphatasia

    Green ALPL in Osteogenesis Imperfecta and Osteoporosis


    Level 2: Skeletal disorders
    Version 1.8

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • 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
    • treatable

    Green ALPL in Calcium and Phosphate disorders


    Level 2: Renal and urinary tract disorders; Endocrine disorders
    Version 1.29

    		4 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypophosphatasia, infantile, OMIM #241500
    • Hypophosphatasia, childhood, OMIM #241510
    • Hypophosphatasia, adult, OMIM # 146300
    • Odontohypophosphatasia, OMIM #146300

    Green ALPL in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.267

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Hypophosphatasia, adult 146300 (AD, AR)
    • Hypophosphatasia, childhood 241510 AR
    • Hypophosphatasia, infantile 241500 AR
    • Odontohypophosphatasia 146300 AD, AR

    Green ALPL in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		3 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • NHS GMS
    • Emory Genetics Laboratory
    Phenotypes
    • Hypophosphatasia, adult 146300 (AD, AR)
    • Hypophosphatasia, childhood 241510 AR
    • Hypophosphatasia, infantile 241500 AR
    • Odontohypophosphatasia 146300 AD, AR
    Tags
    • treatable

    Green ALPL in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hypophosphatasia, infantile, 241500 (3)

    Green ALPL in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Hypophosphatasia

    Green ALPL in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.57

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hypophosphatasia
    • disorder of bone metabolism

    Green ALPL in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
    Phenotypes
    • Hypophosphatasia, infantile MIM# 241500

    Green ALPL in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hypophosphatasia, childhood (MIM#241510)
    • Hypophosphatasia, infantile (MIM#241500)

    Green ALPL in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Hypophosphatasia, childhood OMIM#241510
    • Hypophosphatasia, infantile OMIM#241500
    Tags
    • treatable
    • skeletal

    Green ALPL in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.22

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  4 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypophosphatasia, childhood, OMIM #241510
    • Odontohypophosphatasia, OMIM #146300
    • Hypophosphatasia, adult, OMIM # 146300
    • Hypophosphatasia, infantile, OMIM #241500

    Green ALPL in Transplant Co-Morbidity


    Level 2: Screening
    Version 0.20

    		0 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • disorder of bone metabolism
    • Hypophosphatasia

    Green ALPL in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hypophosphatasia, childhood (MIM#241510)
    • Hypophosphatasia, infantile (MIM#241500)

    Red ALPL in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  0 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert review Green
    Phenotypes
    • disorder of bone metabolism
    • Hypophosphatasia
    • Disorders of pyridoxine metabolism