Fetal hydropsGene: DHCR7
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
Smith-Lemli-Opitz syndrome, MIM#270400
Variants in this GENE are reported as part of current diagnostic practice
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.
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.
DHCR7 was created by rfoulger
DHCR7 was added to Fetal hydropspanel. Sources: Other