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Early onset or syndromic epilepsy v1.191 DHCR24 Rebecca Foulger Source Wessex and West Midlands GLH was added to DHCR24.
Early onset or syndromic epilepsy v1.190 DHCR24 Rebecca Foulger Source NHS GMS was added to DHCR24.
Early onset or syndromic epilepsy v1.189 DHCR24 Rebecca Foulger edited their review of gene: DHCR24: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 DHCR24 Tracy Lester reviewed gene: DHCR24: Rating: AMBER; Mode of pathogenicity: ; Publications: 21559050, 21671375 ; Phenotypes: Desmosterolosis, 602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1080 DHCR24 Rebecca Foulger Marked gene: DHCR24 as ready
Early onset or syndromic epilepsy v0.1080 DHCR24 Rebecca Foulger Gene: dhcr24 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1080 DHCR24 Rebecca Foulger Tag watchlist tag was added to gene: DHCR24.
Early onset or syndromic epilepsy v0.1080 DHCR24 Rebecca Foulger commented on gene: DHCR24: Added 'watchlist' tag.
Early onset or syndromic epilepsy v0.1080 DHCR24 Rebecca Foulger Publications for gene: DHCR24 were set to
Early onset or syndromic epilepsy v0.1079 DHCR24 Rebecca Foulger Classified gene: DHCR24 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1079 DHCR24 Rebecca Foulger Added comment: 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.
Early onset or syndromic epilepsy v0.1079 DHCR24 Rebecca Foulger Gene: dhcr24 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1078 DHCR24 Rebecca Foulger commented on gene: DHCR24: Epilepsy not reported as part of phenotype in patients from PMID:21671375 (Schaaf et al 2011) and PMID:11519011 (Waterham et al.2001).
Early onset or syndromic epilepsy v0.1078 DHCR24 Rebecca Foulger commented on gene: DHCR24: Dias et al, 2014 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.
Early onset or syndromic epilepsy v0.1078 DHCR24 Rebecca Foulger commented on gene: DHCR24
Early onset or syndromic epilepsy v0.1078 DHCR24 Rebecca Foulger Phenotypes for gene: DHCR24 were changed from to Desmosterolosis, 602398
Early onset or syndromic epilepsy v0.1077 DHCR24 Rebecca Foulger Mode of inheritance for gene: DHCR24 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy DHCR24 Zornitza Stark reviewed gene: DHCR24
Early onset or syndromic epilepsy DHCR24 Sarah Leigh Added gene to panel