PGAP2

post-GPI attachment to proteins 2
OMIM: 615187, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green PGAP2 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.44

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628

    Green PGAP2 in Mendeliome


    Version 1.1902

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628

    Amber PGAP2 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628

    Green PGAP2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628

    Green PGAP2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 3, 614207 (3)

    Red PGAP2 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3
    • HPMRS3

    Green PGAP2 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628

    Green PGAP2 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 3, 614207 (3)

    Green PGAP2 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 3, 614207 (3)