1. Genes and Genomic Entities
  2. PAICS

PAICS

phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase
OMIM: 172439, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber PAICS in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ?Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859
    Tags
    • Q1_26_promote_green
    Green PAICS in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859
    • Polyhydramnios
    • multiple congenital abnormalities
    • early neonatal death