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Early onset or syndromic epilepsy v1.191 ALG6 Rebecca Foulger Source Wessex and West Midlands GLH was added to ALG6.
Early onset or syndromic epilepsy v1.190 ALG6 Rebecca Foulger Source NHS GMS was added to ALG6.
Early onset or syndromic epilepsy v1.189 ALG6 Rebecca Foulger reviewed gene: ALG6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 ALG6 Tracy Lester reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, 603147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1524 DHDDS Rebecca Foulger commented on gene: DHDDS: Sabry et al (PMID:27343064) report a patient with DHDDS deficiency and epilepsy amongst his phenotypes. The patient died at 8 months during a status epilepticus. The patient was compound heterozygous for variants in the DHDDS gene. The patient is also homozygous for the c.911 T>C (p.F304S) ALG6 variant that occurs in about one third of the population and does not cause CDG (but is a disease modifier to exacerbate symptoms in patients with glycosylation pathway defects).
Early onset or syndromic epilepsy ALG6 Sarah Leigh marked gene: ALG6 as ready
Early onset or syndromic epilepsy ALG6 Sarah Leigh classified ALG6 as Green List (high evidence)
Early onset or syndromic epilepsy ALG6 Arianna Tucci reviewed gene: ALG6
Early onset or syndromic epilepsy ALG6 Sarah Leigh Added gene to panel