Genomics England
GMS Panels
Panels
Genes and Entities

DHPS

deoxyhypusine synthase
OMIM: 600944
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental Disorder of Hypusination
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abnormality of head or neck, Seizures, EEG abnormality, Behavioral abnormality, Abnormal muscle tone, Intellectual disability, Global developmental delay
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
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