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 8.31
Latest signed off version: v8.0 (30 Apr 2025)

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 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    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