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 2.1

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Disease associations
  • PAICS deficiency MONDO:0859003

Red PAICS in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Disease associations
  • PAICS deficiency MONDO:0859003