Genomics England
GMS Panels
Panels
Genes and Entities

PUS3

pseudouridylate synthase 3
OMIM: 616283
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PUS3-associated neurodevelopmental disorder with microcephaly and gray sclerae
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Microcephaly, Mental retardation, autosomal recessive 55, 617051, Intellectual disability