Hydrocephalus_Ventriculomegaly
Gene: DHCR24EnsemblGeneIds (GRCh38): ENSG00000116133
EnsemblGeneIds (GRCh37): ENSG00000116133
OMIM: 606418, Gene2Phenotype
DHCR24 is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Clinical features include multiple congenital anomalies, including contractures and brain anomalies; intellectual disability; and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells.
At least 10 unrelated families reported, mouse model. Hydrocephalus in multiple individuals.Created: 30 Nov 2021, 7:27 a.m. | Last Modified: 30 Nov 2021, 7:27 a.m.
Panel Version: 0.103
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desmosterolosis, MIM# 602398
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Desmosterolosis, MIM# 602398
- OMIM
- 606418
- Clinvar variants
- Variants in DHCR24
- Penetrance
- None
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Differences of Sex Development
- Hydrocephalus_Ventriculomegaly
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Arthrogryposis
- Mendeliome
- Prepair 500+
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dhcr24 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DHCR24 were changed from to Desmosterolosis, MIM# 602398
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DHCR24 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: DHCR24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DHCR24 was added gene: DHCR24 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DHCR24 was set to Unknown