PIGY

phosphatidylinositol glycan anchor biosynthesis class Y
OMIM: 610662, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber PIGY in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Hyperphosphatasia with impaired intellectual development syndrome 6, OMIM:616809
  • Glycosylphosphatidylinositol deficiency
Green PIGY in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Glycosylphosphatidylinositol deficiency
    Red PIGY in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Literature
    Phenotypes
    • Hyperphosphatasia with mental retardation syndrome 6