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Early onset or syndromic epilepsy v1.431 ALG8 Rebecca Foulger commented on gene: ALG8: 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 enough evidence to rate this gene Green. Although there is inconsistency amongst patients, there are sufficient cases for a Green rating. Kept rating as Green.
Early onset or syndromic epilepsy v1.425 ALG8 Rebecca Foulger changed review comment from: 26066342 (Hock et al., 2015) describe 3 new patients with ALG8-CDG, provide an update on 2 previous patients and summarise 10 previous patients. The 15 patients total included 4 pairs of siblings. Brain involvement (psychomotor disability or seizures or ataxia or structural anomalies) were seen in 12/13 patients.; to: 26066342 (Hock et al., 2015) describe 3 new patients with ALG8-CDG, provide an update on 2 previous patients and summarise 10 previous patients. The 15 patients total included 4 pairs of siblings. Brain involvement (psychomotor disability or seizures or ataxia or structural anomalies) was seen in 12/13 patients.
Early onset or syndromic epilepsy v1.425 ALG8 Rebecca Foulger commented on gene: ALG8: PMID:19688606 (Vesela et al., 2009) present a girl with neonatal onset of CDG. Seizures were present from the first day and the girl died age 2 months from progressive oedema, bleeding and cardio-respiratory insufficiency. She had compound het variants in ALG8 (p.T47P and p.R364X).
Early onset or syndromic epilepsy v1.425 ALG8 Rebecca Foulger commented on gene: ALG8: PMID:23430830 (Millon et al., 2011) report 2 siblings with a congenital glycosylation disorder. Their clinical presentation included seizures. The authors could not identify the genetic deficiency in these patients yet.
Early onset or syndromic epilepsy v1.425 ALG8 Rebecca Foulger commented on gene: ALG8: 26066342 (Hock et al., 2015) describe 3 new patients with ALG8-CDG, provide an update on 2 previous patients and summarise 10 previous patients. The 15 patients total included 4 pairs of siblings. Brain involvement (psychomotor disability or seizures or ataxia or structural anomalies) were seen in 12/13 patients.
Early onset or syndromic epilepsy v1.191 ALG8 Rebecca Foulger Source Wessex and West Midlands GLH was added to ALG8.
Early onset or syndromic epilepsy v1.190 ALG8 Rebecca Foulger Source NHS GMS was added to ALG8.
Early onset or syndromic epilepsy v1.189 ALG8 Rebecca Foulger reviewed gene: ALG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 ALG8 Tracy Lester reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ih 608104, Polycystic liver disease 3 with or without kidney cysts 617874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.679 ALG8 Sarah Leigh commented on gene: ALG8: Associated with Congenital disorder of glycosylation, type Ih 608104 in OMIM and as confirmed Gen2Phen, however, neither resource recorded seizures among the phenotypic features. Variants have been reported in at least 13 cases carrying biallelic ALG8 variants PMIDs 26066342 & 19688606.
Early onset or syndromic epilepsy v0.679 ALG8 Sarah Leigh Classified gene: ALG8 as Green List (high evidence)
Early onset or syndromic epilepsy v0.679 ALG8 Sarah Leigh Added comment: Comment on list classification: Based on evidence in publications 26066342 & 19688606
Early onset or syndromic epilepsy v0.679 ALG8 Sarah Leigh Gene: alg8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.678 ALG8 Sarah Leigh Phenotypes for gene: ALG8 were changed from to Congenital disorder of glycosylation, type Ih 608104
Early onset or syndromic epilepsy v0.677 ALG8 Sarah Leigh Publications for gene: ALG8 were set to
Early onset or syndromic epilepsy ALG8 Zornitza Stark reviewed gene: ALG8
Early onset or syndromic epilepsy ALG8 Sarah Leigh marked gene: ALG8 as ready
Early onset or syndromic epilepsy ALG8 Sarah Leigh classified ALG8 as Red List (low evidence)
Early onset or syndromic epilepsy ALG8 Arianna Tucci reviewed gene: ALG8
Early onset or syndromic epilepsy ALG8 Sarah Leigh Added gene to panel