PanelApp (test)
  1. Genes and Genomic Entities
  2. PIGY

PIGY

phosphatidylinositol glycan anchor biosynthesis class Y
OMIM: 610662, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PIGY in Mendeliome


Version 1.1902

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 0.6063

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 1.255

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