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Cerebral Palsy

Gene: DHPS

Amber List (moderate evidence)

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

1 review

Clare van Eyk (University of Adelaide)

I don't know

NEDSSWI is an autosomal recessive disorder with onset in infancy. In the first case series of 5 patients from 4 families, pregnancy complications including pregnancy-induced hypertension, preeclampsia, oligohydramnios, low blood pressure and premature birth were reported (PMID: 30661771). Patients show global developmental delay and hypotonia, hypertonia, spasticity, or poor coordination. 2 individuals have been reported with a cerebral palsy diagnosis (PMID: 30661771;38843839).
Sources: Literature
Created: 24 Jul 2024, 1:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with seizures and speech and walking impairment (NEDSSWI), MIM#618480

Publications

Details

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

History Filter Activity

24 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dhps has been classified as Amber List (Moderate Evidence).

24 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dhps has been classified as Amber List (Moderate Evidence).

24 Jul 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Clare van Eyk (University of Adelaide)

gene: DHPS was added gene: DHPS was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHPS were set to PMID: 30661771; 38843839 Phenotypes for gene: DHPS were set to Neurodevelopmental disorder with seizures and speech and walking impairment (NEDSSWI), MIM#618480 Review for gene: DHPS was set to AMBER