Genomics England
GMS Panels
Panels
Genes and Entities

PAICS

phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase
OMIM: 172439
PanelMode of inheritanceDetails
1 panel
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859, Polyhydramnios, multiple congenital abnormalities, early neonatal death