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Early onset or syndromic epilepsy v2.483 HEXB Arina Puzriakova Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms, 268800; seizures; myoclonic epilepsy to Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Early onset or syndromic epilepsy v1.191 HEXB Rebecca Foulger Source Wessex and West Midlands GLH was added to HEXB.
Early onset or syndromic epilepsy v1.190 HEXB Rebecca Foulger Source NHS GMS was added to HEXB.
Early onset or syndromic epilepsy v1.189 HEXB Rebecca Foulger edited their review of gene: HEXB: 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: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 HEXB Tracy Lester reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sandhoff disease infantile juvenile and adult forms, 268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.185 HEXB Rebecca Foulger Classified gene: HEXB as Green List (high evidence)
Early onset or syndromic epilepsy v1.185 HEXB Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Sufficient cases of Sandhoff disease with seizures (PMID:28553389, PMID:7626071, PMID: 30075786) for inclusion on panel.
Early onset or syndromic epilepsy v1.185 HEXB Rebecca Foulger Gene: hexb has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.127 HEXB Rebecca Foulger Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms, 268800; seizures to Sandhoff disease, infantile, juvenile, and adult forms, 268800; seizures; myoclonic epilepsy
Early onset or syndromic epilepsy v1.126 HEXB Rebecca Foulger Publications for gene: HEXB were set to 2967418; 21153386; 22848519; 30075786
Early onset or syndromic epilepsy v1.125 HEXB Rebecca Foulger commented on gene: HEXB: PMID:28553389: Gowda et al., 2017 report a 1 year old boy with Sanhoff disease without hepatosplenomegaly, and a homozygous missense variant in HEXB (p.Cys534Tyr). The boy suffered from focal seizures from 11 months. A sibling died age 18 months with 'similar complaints'. Further controls or segregation analysis was not performed. The authors say the same variant was reported previously in a Japanese case which showed myoclonic epilepsy and hepatosplenomegaly (PMID:7626071).
Early onset or syndromic epilepsy v1.125 HEXB Rebecca Foulger Publications for gene: HEXB were set to 2967418; 21153386; 22848519
Early onset or syndromic epilepsy v1.124 HEXB Rebecca Foulger commented on gene: HEXB: PMID: 30075786: Tavasoli et al., 2018 studied 25 Iranian patients with Sandhoff disease. 8/25 patients had seizures (Table 2) with a mean age at presentation 5.6 months. HEXB gene mutation studies were performed in 8 patients, including 2 patients with seizures (novel HEXB variants were identified in patients 4 and 13).
Early onset or syndromic epilepsy v1.124 HEXB Rebecca Foulger commented on gene: HEXB
Early onset or syndromic epilepsy v1.124 HEXB Rebecca Foulger Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms, 268800 to Sandhoff disease, infantile, juvenile, and adult forms, 268800; seizures
Early onset or syndromic epilepsy v1.123 HEXB Rebecca Foulger Publications for gene: HEXB were set to 2967418; 21153386
Early onset or syndromic epilepsy v1.9 HEXB Louise Daugherty Mode of inheritance for gene: HEXB was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.8 HEXB Louise Daugherty Publications for gene: HEXB were set to
Early onset or syndromic epilepsy v1.7 HEXB Louise Daugherty Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, 268800
Early onset or syndromic epilepsy v0.1532 HEXB Sarah Leigh Marked gene: HEXB as ready
Early onset or syndromic epilepsy v0.1532 HEXB Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1532 HEXB Sarah Leigh Gene: hexb has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy HEXB Zornitza Stark reviewed gene: HEXB
Early onset or syndromic epilepsy HEXB Sarah Leigh Added gene to panel