Cerebral Palsy
Gene: DHPSEnsemblGeneIds (GRCh38): ENSG00000095059
EnsemblGeneIds (GRCh37): ENSG00000095059
OMIM: 600944, Gene2Phenotype
DHPS is in 4 panels
1 review
Clare van Eyk (University of Adelaide)
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: LiteratureCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dhps has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dhps has been classified as Amber List (Moderate Evidence).
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