PIGM

phosphatidylinositol glycan anchor biosynthesis class M
OMIM: 610273, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber PIGM in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 2.0

2 reviews 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 2.0

1 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