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Early onset or syndromic epilepsy v1.191 TSFM Rebecca Foulger Source Wessex and West Midlands GLH was added to TSFM.
Early onset or syndromic epilepsy v1.190 TSFM Rebecca Foulger Source NHS GMS was added to TSFM.
Early onset or syndromic epilepsy v1.189 TSFM Rebecca Foulger edited their review of gene: TSFM: 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: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 TSFM Tracy Lester reviewed gene: TSFM: Rating: AMBER; Mode of pathogenicity: ; Publications: 17033963; Phenotypes: Combined oxidative phosphorylation deficiency 3, 610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.521 TSFM Rebecca Foulger Marked gene: TSFM as ready
Early onset or syndromic epilepsy v0.521 TSFM Rebecca Foulger Gene: tsfm has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.521 TSFM Rebecca Foulger Classified gene: TSFM as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.521 TSFM Rebecca Foulger Added comment: Comment on list classification: Rated gene as Amber: Phenotype is appropriate for panel since MIM:610505 can present with seizures. Variants in TSFM are causative for combined oxidative phosphorylation deficiency-3 (MIM:610505) but seizures reported in only 2 unrelated patients so far (PMID:17033963 and 21119709). Further reports of seizures/epilepsy as part of MIM:610505 are required for a diagnostic rating.
Early onset or syndromic epilepsy v0.521 TSFM Rebecca Foulger Gene: tsfm has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.520 TSFM Rebecca Foulger commented on gene: TSFM: Smits et al (PMID:21119709) identified a homozygous R333W mutation in a patient with MIM:610505. The patient had epilepsy.
Early onset or syndromic epilepsy v0.520 TSFM Rebecca Foulger commented on gene: TSFM: Added 'watchlist' tag.
Early onset or syndromic epilepsy v0.520 TSFM Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI confirmed by OMIM.
Early onset or syndromic epilepsy v0.520 TSFM Rebecca Foulger Mode of inheritance for gene: TSFM was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.519 TSFM Rebecca Foulger Publications for gene: TSFM were set to
Early onset or syndromic epilepsy v0.518 TSFM Rebecca Foulger Phenotypes for gene: TSFM were changed from to Combined oxidative phosphorylation deficiency 3, 610505; seizures
Early onset or syndromic epilepsy v0.517 TSFM Rebecca Foulger Tag watchlist tag was added to gene: TSFM.
Early onset or syndromic epilepsy v0.517 TSFM Rebecca Foulger commented on gene: TSFM
Early onset or syndromic epilepsy TSFM Zornitza Stark reviewed gene: TSFM
Early onset or syndromic epilepsy TSFM Sarah Leigh Added gene to panel