Rebecca Foulger commented on gene: TMEM70: 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 insufficient evidence to rate this gene Green. Insufficient seizure evidence. Demoted from Green to Amber.
Rebecca Foulger edited their review of gene: TMEM70: 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: Amber. ; Changed rating: AMBER
Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review, and Confirmed DD-G2P gene for Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 which can present with seizures. Seizures reported in 3 unrelated patients from the literature (2 in PMID:18953340 and 1 in PMID:21147908) so just sufficient cases for Green rating.
Rebecca Foulger commented on gene: TMEM70: In 6 patients from 4 unrelated consanguineous Arab-Muslim families with MC5DN2, Spiegel et al. (2011, PMID:21147908) identified 4 different homozygous mutations in the TMEM70 gene. Patient IV-1 developed generalised seizures at age 13.