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Genetic epilepsy syndromes v1.462 TMEM70 Rebecca Foulger Classified gene: TMEM70 as Amber List (moderate evidence)
Genetic epilepsy syndromes v1.462 TMEM70 Rebecca Foulger Gene: tmem70 has been classified as Amber List (Moderate Evidence).
Genetic epilepsy syndromes v1.461 TMEM70 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.
Genetic epilepsy syndromes v1.191 TMEM70 Rebecca Foulger Source Wessex and West Midlands GLH was added to TMEM70.
Genetic epilepsy syndromes v1.190 TMEM70 Rebecca Foulger Source NHS GMS was added to TMEM70.
Genetic epilepsy syndromes v1.189 TMEM70 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
Genetic epilepsy syndromes v1.188 TMEM70 Tracy Lester reviewed gene: TMEM70: Rating: AMBER; Mode of pathogenicity: ; Publications: 25326274, 21147908 ; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2, 614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic epilepsy syndromes v0.642 TMEM70 Rebecca Foulger Marked gene: TMEM70 as ready
Genetic epilepsy syndromes v0.642 TMEM70 Rebecca Foulger Gene: tmem70 has been classified as Green List (High Evidence).
Genetic epilepsy syndromes v0.642 TMEM70 Rebecca Foulger Publications for gene: TMEM70 were set to
Genetic epilepsy syndromes v0.641 TMEM70 Rebecca Foulger Classified gene: TMEM70 as Green List (high evidence)
Genetic epilepsy syndromes v0.641 TMEM70 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.
Genetic epilepsy syndromes v0.641 TMEM70 Rebecca Foulger Gene: tmem70 has been classified as Green List (High Evidence).
Genetic epilepsy syndromes v0.640 TMEM70 Rebecca Foulger Mode of inheritance for gene: TMEM70 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic epilepsy syndromes v0.639 TMEM70 Rebecca Foulger Mode of inheritance for gene: TMEM70 was changed from to BIALLELIC, autosomal or pseudoautosomal
Genetic epilepsy syndromes v0.637 TMEM70 Rebecca Foulger Phenotypes for gene: TMEM70 were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052; seizures
Genetic epilepsy syndromes v0.636 TMEM70 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.
Genetic epilepsy syndromes v0.636 TMEM70 Rebecca Foulger commented on gene: TMEM70
Genetic epilepsy syndromes TMEM70 Zornitza Stark reviewed gene: TMEM70
Genetic epilepsy syndromes TMEM70 Sarah Leigh Added gene to panel