PanelApp (staging)
  1. Genes and Genomic Entities
  2. DHPS

DHPS

deoxyhypusine synthase
OMIM: 600944, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber DHPS in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with seizures and speech and walking impairment (NEDSSWI), MIM#618480

Green DHPS in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480

Green DHPS in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480

    Green DHPS in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480