Rebecca Foulger edited their review of gene: DHCR7: Added comment: Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber. ; Changed rating: AMBER
Rebecca Foulger Added comment: Comment on list classification: Demoted rating from Green to Amber following agreement from Helen Brittain (Genomics England clinical team). DHCR7 is currently Green based on its association with Smith-Lemli-Opitz syndrome (SLOS). Seizures are uncommon (1/23 in PMID:24920862 and 1/3 in PMID:29226552). A 2002 paper (PMID:10807690) also suggests seizures are no more common than in general population. Therefore further evidence is required for a clear link between DHCR7 and seizure phenotype. Note that DHCR7 has been promoted to Green on the metabolism panels so will be Green on the GMS epilepsy superpanel through the metabolic phenotype.
Rebecca Foulger commented on gene: DHCR7: PMID:10807690: Kelley et al., 2000 report that seizures are uncommon in biochemically-proven cases of Smith-Lemli-Poitz syndrome (SLOS), and may not be substantially more frequent than in children without SLOS.