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

PIGM

phosphatidylinositol glycan anchor biosynthesis class M
OMIM: 610273, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber PIGM 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 Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycosylphosphatidylinositol deficiency, MIM# 610293
    • portal vein thrombosis
    • persistent absence seizures
    • macrocephaly
    • infantile-onset cerebrovascular thrombotic events
    • portal vein thrombosis
    • persistent absence seizures
    • macrocephaly
    • infantile-onset cerebrovascular thrombotic events
    Tags
    • founder

    Amber PIGM in Mendeliome


    Version 1.1891

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycosylphosphatidylinositol deficiency, MIM# 610293
    • portal vein thrombosis
    • persistent absence seizures
    • macrocephaly
    • infantile-onset cerebrovascular thrombotic events
    Tags
    • founder