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  3. DHPS
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Fetal anomalies

Gene: DHPS

Amber List (moderate evidence)
DHPS (deoxyhypusine synthase)
EnsemblGeneIds (GRCh38): ENSG00000095059
EnsemblGeneIds (GRCh37): ENSG00000095059
OMIM: 600944, Gene2Phenotype
DHPS is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Elizabeth Scotchman (North Thames Genomic Laboratory Hub)

I don't know

Green on UK panels: DDG2P, Early onset or syndromic epilepsy and Intellectual disability. PMID 30661771 reported 5 patients, including 2 sibs, with a neurodevelopmental disorder. The pregnancies had various complications, including HELLP syndrome, pregnancy-induced hypertension, preeclampsia, oligohydramnios, and/or low blood pressure. The sibs showed nuchal translucency, and 2 unrelated patients were born prematurely at 32 and 34 weeks' gestation. No phenotype that would be seen prenatally - brain imaging was normal and mild dyspmorphic features.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with seizures and speech and walking impairment, OMIM:618480

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with seizures and speech and walking impairment, OMIM:618480
OMIM
600944
Clinvar variants
Variants in DHPS
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Neurodevelopmental disorder with seizures and speech and walking impairment, OMIM:618480 for gene: DHPS

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: DHPS was added gene: DHPS was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal