PAICS

phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase
OMIM: 172439, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber PAICS in Fetal anomalies


Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Polyhydramnios
  • multiple congenital abnormalities
  • early neonatal death