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 1.4232

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

Red PAICS in Fetal anomalies


Version 1.525

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