Skeletal dysplasiaGene: DHCR7
Comment on list classification: This ciliopathy gene is being added to the Skeletal dysplasia panel after discussion with the Genomics England clinical team. Smith-Lemli-Optiz syndrome includes features such as limb shortening as well as abnormalities of the hands and feet.
Created: 15 Nov 2019, 2:27 p.m. | Last Modified: 15 Nov 2019, 2:27 p.m.
Panel Version: 1.210
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: 15 Nov 2019, 2:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Smith-Lemli-Opitz syndrome 270400
Gene: dhcr7 has been classified as Green List (High Evidence).
gene: DHCR7 was added gene: DHCR7 was added to Skeletal dysplasia. Sources: Other 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 Review for gene: DHCR7 was set to GREEN