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:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Urocanase deficiency , OMIM:276880, urocanic aciduria, MONDO:0010167