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Early onset or syndromic epilepsy v1.446 HLCS Rebecca Foulger Classified gene: HLCS as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.446 HLCS Rebecca Foulger Gene: hlcs has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.445 HLCS Rebecca Foulger commented on gene: HLCS: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green. Better tested through the metabolic panel. Demoted from Green to Amber.
Early onset or syndromic epilepsy v1.416 HLCS Rebecca Foulger commented on gene: HLCS: PMID:27114915 (Donti et al., 2016) describe a cohort of 5 patients. Case 5 had focal seizures age 5 months which have continued since. He has compound het variants in HLCS (N570K and c.1519+5G>A). The authors note that the phenotypic spectrum of HCLS is broad, from intractable seizures and ID to normal growth and development.
Early onset or syndromic epilepsy v1.405 HLCS Rebecca Foulger Publications for gene: HLCS were set to
Early onset or syndromic epilepsy v1.404 HLCS Rebecca Foulger Phenotypes for gene: HLCS were changed from to Holocarboxylase synthetase deficiency, 253270
Early onset or syndromic epilepsy v1.191 HLCS Rebecca Foulger Source Wessex and West Midlands GLH was added to HLCS.
Early onset or syndromic epilepsy v1.190 HLCS Rebecca Foulger Source NHS GMS was added to HLCS.
Early onset or syndromic epilepsy v1.189 HLCS Rebecca Foulger reviewed gene: HLCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 HLCS Tracy Lester reviewed gene: HLCS: Rating: AMBER; Mode of pathogenicity: ; Publications: 22027809, 27114915; Phenotypes: Holocarboxylase synthetase deficiency, 253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.504 HLCS Sarah Leigh Mode of inheritance for gene: HLCS was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.504 HLCS Sarah Leigh Mode of inheritance for gene: HLCS was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.501 HLCS Louise Daugherty Classified gene: HLCS as Green List (high evidence)
Early onset or syndromic epilepsy v0.501 HLCS Louise Daugherty Added comment: Comment on list classification: changed rating from Red to Green as suggested by external reviewer. . Publications support gene-disease association and rating of this gene to Green.
Early onset or syndromic epilepsy v0.501 HLCS Louise Daugherty Gene: hlcs has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy HLCS Zornitza Stark reviewed gene: HLCS
Early onset or syndromic epilepsy HLCS Sarah Leigh Added gene to panel