Skeletal ciliopathies

Gene: DHCR7

Green List (high evidence)

DHCR7 (7-dehydrocholesterol reductase)
EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 30 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Associated with Smith-Lemli-Opitz syndrome in OMIM. They describe this as "an autosomal recessive multiple congenital malformation and mental retardation syndrome." Several skeletal features are listed in the clinical features in OMIM including limb shortening, Hip dislocation and subluxation, and abnormalities of the hands and feet.
Created: 14 Nov 2019, 11:41 a.m. | Last Modified: 14 Nov 2019, 11:41 a.m.
Panel Version: 0.15

Alice Gardham (Genomics England)

Green List (high evidence)

Important differential diagnosis of ciliopathy
Created: 25 Jan 2017, 2:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Smith-Lemli-Opitz syndrome 270400


History Filter Activity

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: DHCR7 was added gene: DHCR7 was added to Skeletal ciliopathies. Sources: UKGTN,Expert Review Green Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 9634533 Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome 270400