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
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.
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.
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).
Rebecca Foulger Added comment: Comment on publications: PMID:24462369 state that seizures aren't a prominent feature of individuals with SURF1 variants.