PIGB

phosphatidylinositol glycan anchor biosynthesis class B
OMIM: 604122, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PIGB in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Developmental and epileptic encephalopathy 80 618580

Green PIGB in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 80, MIM# 618580

Green PIGB in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 80, MIM# 618580

Green PIGB in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 80, MIM# 618580