Genomics England
GMS Panels
Panels
Genes and Entities

UROC1

urocanate hydratase 1
OMIM: 613012
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Urocanase deficiency , OMIM:276880, urocanic aciduria, MONDO:0010167