DHPS

deoxyhypusine synthase
OMIM: 600944, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber DHPS in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Neurodevelopmental disorder with seizures and speech and walking impairment, OMIM:618480
Green DHPS in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) 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 9.73 Latest signed off version: v9.56 (12 Aug 2026) 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 11.26 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset 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