1. Genes and Genomic Entities
  2. PUS7

PUS7

pseudouridylate synthase 7 (putative)
OMIM: 616261, Gene2Phenotype

4 panels

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

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.82
Latest signed off version: v4.0 (22 Mar 2023)

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 3.88
Latest signed off version: v3.1 (22 Mar 2023)

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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    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
    Green PUS7 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342