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Prepair 1000+

Gene: DHCR24

Green List (high evidence)

DHCR24 (24-dehydrocholesterol reductase)
EnsemblGeneIds (GRCh38): ENSG00000116133
EnsemblGeneIds (GRCh37): ENSG00000116133
OMIM: 606418, Gene2Phenotype
DHCR24 is in 16 panels

1 review

Karina Sandoval (Victorian Clinical Genetics Services)

Green List (high evidence)

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. Seizures are a feature.

Clinical features include elevated levels of desmosterol in plasma, tissue, and cultured cells due to the deficiency of DHCR24-reductase; multiple congenital anomalies present, including brain abnormalities, dysmorphic features, ID, and developmental delay.

Desmosterolosis is classified as a metabolic disorder by the NIH GARD, and is an inborn error of sterol metabolism.
Created: 11 Mar 2025, 2:45 a.m. | Last Modified: 11 Mar 2025, 2:45 a.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Desmosterolosis, MIM#602398

Publications

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Desmosterolosis, 602398 (3) for gene: DHCR24

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DHCR24 was added gene: DHCR24 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHCR24 were set to Desmosterolosis, 602398 (3)