PanelApp (staging)
  1. Genes and Genomic Entities
  2. PGAP3

PGAP3

post-GPI attachment to proteins 3
OMIM: 611801, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green PGAP3 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.58

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318

    Green PGAP3 in Mendeliome


    Version 1.2302

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318

    Green PGAP3 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.108

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318

    Green PGAP3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318

    Green PGAP3 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)

    Green PGAP3 in Clefting disorders

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

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Hyperphosphatasia with impaired intellectual development syndrome 4, OMIM:615716

    Green PGAP3 in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318

    Green PGAP3 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318