Genomics England
GMS Panels
Panels
Genes and Entities

PUS3

pseudouridylate synthase 3
OMIM: 616283
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Microcephaly, Mental retardation, autosomal recessive 55, 617051, Intellectual disability