PanelApp (stage)
  1. Genes and Genomic Entities
  2. GPAA1

GPAA1

glycosylphosphatidylinositol anchor attachment 1
OMIM: 603048, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green GPAA1 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
    • Expert Review
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810

    Green GPAA1 in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.65

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810

    Green GPAA1 in Mendeliome


    Version 1.1891

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810

    Green GPAA1 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 Green
    • Expert list
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810

    Green GPAA1 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
    • Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810

    Green GPAA1 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    • Royal Melbourne Hospital
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 15, 617810

    Amber GPAA1 in Vascular Malformations_Germline


    Level 2: Cardiovascular disorders
    Version 1.11

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Vascular anomalies

    Green GPAA1 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
    • Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3), Autosomal recessive

    Red GPAA1 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810

    Green GPAA1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3), Autosomal recessive