1. Genes and Genomic Entities
  2. DHPS

DHPS

deoxyhypusine synthase
OMIM: 600944, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green DHPS 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
    • Neurodevelopmental Disorder of Hypusination
    Green DHPS in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review
    • Expert Review Green
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Abnormality of head or neck
    • Seizures
    • EEG abnormality
    • Behavioral abnormality
    • Abnormal muscle tone
    • Intellectual disability
    • Global developmental delay
    Green DHPS in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    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
    • Abnormality of head or neck
    • Seizures
    • Abnormal muscle tone, Global developmental delay, Intellectual disability, Seizures, EEG abnormality, Behavioral abnormality, Abnormality of head or neck
    • EEG abnormality
    • Behavioral abnormality
    • Abnormal muscle tone
    • Intellectual disability
    • Global developmental delay