PIGV

phosphatidylinositol glycan anchor biosynthesis class V
OMIM: 610274, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green PIGV in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.60

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 1, MIM# 239300, MONDO:0009398

    Amber PIGV in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.430

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • Hyperphosphatasia with impaired intellectual development syndrome 1, MIM# 239300

    Green PIGV in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398

    Green PIGV in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398

    Green PIGV in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398

    Green PIGV in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 1 239300

    Green PIGV 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 1, 239300 (3)

    Green PIGV in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.260

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
    • HPMRS1

    Green PIGV in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.76

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 1 239300

    Green PIGV in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398

    Green PIGV in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398