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 4.1
Latest signed off version: v4.0 (1 May 2024)

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