Skeletal Dysplasia_Fetal
Gene: DHCR24EnsemblGeneIds (GRCh38): ENSG00000116133
EnsemblGeneIds (GRCh37): ENSG00000116133
OMIM: 606418, Gene2Phenotype
DHCR24 is in 16 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Uncertain whether it would present antenatally predominantly with the skeletal findings. Appropriately rated Green on Fetal Anomalies.Created: 24 Oct 2022, 7:28 a.m. | Last Modified: 24 Oct 2022, 7:28 a.m.
Panel Version: 0.149
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desmosterolosis - MIM#602398
Krithika Murali (Victorian Clinical Genetics Services)
Although contractures are the more prominent antenatal feature, rhizomesomelia diagnosed at birth has been described.
Sources: Literature, Expert listCreated: 20 Oct 2022, 6:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desmosterolosis - MIM#602398
Publications
- PMID: 21671375
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Literature
- Phenotypes
-
- Desmosterolosis - MIM#602398
- OMIM
- 606418
- Clinvar variants
- Variants in DHCR24
- Penetrance
- None
- Publications
-
- PMID: 21671375
- 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 Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dhcr24 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: DHCR24 was added gene: DHCR24 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR24 were set to PMID: 21671375 Phenotypes for gene: DHCR24 were set to Desmosterolosis - MIM#602398 Review for gene: DHCR24 was set to GREEN