PIGY

phosphatidylinositol glycan anchor biosynthesis class Y
OMIM: 610662, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PIGY in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809

Amber PIGY 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 Amber
  • Genetic Health Queensland
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809

Amber PIGY in Fetal anomalies


Version 1.313

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809