PAICS

phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase
OMIM: 172439, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red PAICS in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Polyhydramnios
  • multiple congenital abnormalities

Red PAICS in Fetal anomalies


Version 1.313

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Polyhydramnios
  • multiple congenital abnormalities
  • early neonatal death