Groopman et al 2019 - Genes with diagnostic variants

Gene: DHCR7

Green List (high evidence)

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

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: DHCR7; Inheritance: AR; Clinical diagnosis: Nephropathy of unknown origin; Congenital or cystic renal disease; Tubulointerstitial disease; Genetic diagnosis: Smith-Lemli-Opitz syndrome; OMIM phenotype MIM no.: 270400; Number of cases: 3 (all compound heterozygous)
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4

History Filter Activity

2 Jul 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to DHCR7. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: DHCR7 was added gene: DHCR7 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHCR7 were set to Tubulointerstitial disease; Congenital or cystic renal disease; Nephropathy of unknown origin; MIM 270400; Smith-Lemli-Opitz syndrome