Early onset or syndromic epilepsy
Gene: DHCR24
PMID 21559050 describe a family with desmosterolosis, which includes seizures in the phenotype. Additionally there are a few other variants reported to be associated with desmosterolsis (although it is not clear from the publications whether the patients suffered with seizures)Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desmosterolosis, 602398
Publications
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: Alison Callaway and John Taylor. Suggested gene rating: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Added 'watchlist' tag.Created: 22 Nov 2018, 4:10 p.m.
Comment on list classification: Kept rating as Amber: Confirmed DD-G2P gene for Desmosterolosis but only 2 families reported so far in the literature with seizures as part of the desmosterolosis phenotype: PMIDs:21559050 and 24961299.Created: 22 Nov 2018, 4:10 p.m.
Epilepsy not reported as part of phenotype in patients from PMID:21671375 (Schaaf et al 2011) and PMID:11519011 (Waterham et al.2001).Created: 22 Nov 2018, 4:02 p.m.
Dias et al, 2014 (PMID:24961299) report two sisters homozygous for the 571G>A (E191K) DHCR24 variant with syndromic ID and desmosterolosis. Each had transient neonatal seizures. The authors also provide a summary table of 9 patients to-date (2014) with DHCR24 and Desmosterolosis. Only this family and the kindred reported by PMID:21559050 exhibit seizures as part of their phenotype (3 of 9 patients, 2 families).Created: 22 Nov 2018, 3:53 p.m.
In affected members of a consanguineous Bedouin family with desmosterolosis, Zolotushko et al. (2011, PMID:21559050) identified a homozygous 307C-T transition in DCHR24 (R103C). The phenotype was consistent among affected individuals and included failure to thrive and seizures.Created: 22 Nov 2018, 3:01 p.m.
Seizures are a feature of this multi system metabolic disorder.Created: 12 Aug 2018, 6:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desmosterolosis, MIM#602398
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to DHCR24.
Source NHS GMS was added to DHCR24.
Zornitza Stark: Seizures are a feature of this
Gene: dhcr24 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: DHCR24.
Publications for gene: DHCR24 were set to
Gene: dhcr24 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: DHCR24 were changed from to Desmosterolosis, 602398
Mode of inheritance for gene: DHCR24 was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to DHCR24. Panel: Genetic Epilepsy Syndromes
DHCR24 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
DHCR24 was created by Sarah Leigh