PanelApp (test)
  1. Genes and Genomic Entities
  2. PIGS:Ensemblv90

PIGS:Ensemblv90

phosphatidylinositol glycan anchor biosynthesis class S
OMIM: 610271, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green PIGS in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 1.1

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143

    Green PIGS in Congenital Disorders of Glycosylation


    Level 2: Metabolic disorders
    Version 1.80

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 18 618143

    Green PIGS in Mendeliome


    Version 1.3802

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 18 618143

    Green PIGS in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.309

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 18 618143

    Green PIGS in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143

    Green PIGS in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.162

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Developmental and epileptic encephalopathy 95, OMIM # 618143

    Green PIGS in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143

    Green PIGS in Congenital Disorders of Glycosylation


    Level 2: Metabolic disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Expert Review Green
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 18 618143

    Green PIGS in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Expert Review Green
    Phenotypes
    • Glycosylphosphatidylinositol biosynthesis defect 18 618143