1. Genes and Genomic Entities
  2. PUS7

PUS7

pseudouridylate synthase 7 (putative)
OMIM: 616261, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green PUS7 in Severe microcephaly


Level 2: Neurology
Version 9.3
Latest signed off version: v9.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM:618342
Green PUS7 in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Intellectual Disability with Speech Delay Microcephaly Short Stature and Aggressive Behavior
    Green PUS7 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.18
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342
    • Short stature
    • Microcephaly
    • Intellectual disability
    • Behavioral abnormality