Fetal hydrops

Gene: DHCR7

Red List (low evidence)

DHCR7 (7-dehydrocholesterol reductase)
EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 29 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Nuchal oedema in 3/30 cases in the series reported in PMID 1473556; two other case reports of prenatal presentation with oedema/hydrops.
Created: 30 Dec 2019, 5:24 a.m. | Last Modified: 30 Dec 2019, 5:24 a.m.
Panel Version: 1.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Smith-Lemli-Opitz syndrome, MIM#270400

Publications

Variants in this GENE are reported as part of current diagnostic practice

Rebecca Foulger (Genomics England curator)

DHCR7 is on the NGS Non-immune Hydrops Panel for Greenwood Genetic centre: http://www.ggc.org/images/NGS_Hydrops_Panel_Genes_and_Conditions.pdf. PMID:10215064 report two cases of Smith-Lemli-Opitz syndrome (OMIM:270400) in the third trimester, one with persisting nuchal oedema and the other presenting with hydrops. >3 cases in OMIM of DHCR7 variants linked to Smith-Lemli-Opitz syndrome (OMIM:270400).
Created: 21 Dec 2016, 11:39 a.m.

History Filter Activity

21 Dec 2016, Gel status: 0

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.

21 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

DHCR7 was created by rfoulger

21 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

DHCR7 was added to Fetal hydropspanel. Sources: Other