1. Genes and Genomic Entities
  2. PUS3

PUS3

pseudouridylate synthase 3
OMIM: 616283, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green PUS3 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with microcephaly and gray sclerae, OMIM:617051
Green PUS3 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PUS3-associated neurodevelopmental disorder with microcephaly and gray sclerae
    Green PUS3 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Expert Review Green
    • Expert Review
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly and gray sclerae, OMIM:617051