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Early onset or syndromic epilepsy v1.191 SURF1 Rebecca Foulger Source Wessex and West Midlands GLH was added to SURF1.
Early onset or syndromic epilepsy v1.190 SURF1 Rebecca Foulger Source NHS GMS was added to SURF1.
Early onset or syndromic epilepsy v1.189 SURF1 Rebecca Foulger edited their review of gene: SURF1: 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: John Taylor and Helen Lord. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 SURF1 Tracy Lester reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24027061, 23829769, 29481804 ; Phenotypes: Charcot-Marie-Tooth disease type 4K, 616684, Leigh syndrome, due to COX IV deficiency, 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.742 SURF1 Rebecca Foulger Marked gene: SURF1 as ready
Early onset or syndromic epilepsy v0.742 SURF1 Rebecca Foulger Gene: surf1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.742 SURF1 Rebecca Foulger Classified gene: SURF1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.742 SURF1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Green review. Confirmed DD-G2P gene for Leigh syndrome and Complex IV deficiency, which can present with seizures. Seizures are a recognised phenotype for Leigh syndrome, although not necessarily in LS patients caused by SURF1 variants (PMID:24462369). However, in their multi-centre study, PMID:24462369 report sufficient cases of SURF1-deficient patients with seizures (6 of 44) for inclusion on this panel.
Early onset or syndromic epilepsy v0.742 SURF1 Rebecca Foulger Gene: surf1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.741 SURF1 Rebecca Foulger commented on gene: SURF1: PMID:28273704 found SURF1 variants in 10 Leigh syndrome patients, making it the most common variation in this study. The most common primary symptoms of patients include seizures. The article is in Chinese so the full article can not be curated at this time.
Early onset or syndromic epilepsy v0.741 SURF1 Rebecca Foulger commented on gene: SURF1: Wedatilake et al. 2013 (PMID:23829769) conducted a study of 44 SURF1-deficient patients from 37 pedigrees from 10 different UK centres and two Australian centres. Seizures were found in 14% of patients (6 patients).
Early onset or syndromic epilepsy v0.741 SURF1 Rebecca Foulger Added comment: Comment on publications: PMID:24462369 state that seizures aren't a prominent feature of individuals with SURF1 variants.
Early onset or syndromic epilepsy v0.741 SURF1 Rebecca Foulger Publications for gene: SURF1 were set to
Early onset or syndromic epilepsy v0.729 SURF1 Rebecca Foulger Mode of inheritance for gene: SURF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.728 SURF1 Rebecca Foulger Phenotypes for gene: SURF1 were changed from to Leigh syndrome, due to COX IV deficiency, 256000
Early onset or syndromic epilepsy SURF1 Zornitza Stark reviewed gene: SURF1
Early onset or syndromic epilepsy SURF1 Sarah Leigh Added gene to panel