Early onset or syndromic epilepsy
Gene: TSFM
better tested through the mito panel. Possible association with combined oxidative phosphorylation deficiency-3 which may be associated with seizures.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 3, 610505
Publications
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.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
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.Created: 3 Nov 2018, 11:14 a.m.
Smits et al (PMID:21119709) identified a homozygous R333W mutation in a patient with MIM:610505. The patient had epilepsy.Created: 3 Nov 2018, 11:04 a.m.
Added 'watchlist' tag.Created: 3 Nov 2018, 10:50 a.m.
Comment on mode of inheritance: Biallelic MOI confirmed by OMIM.Created: 3 Nov 2018, 10:50 a.m.
In 2 unrelated patients with combined oxidative phosphorylation deficiency-3 (MIM:610505), Smeitink et al. (2006, PMID:17033963) identified a homozygous 997C-T transition in exon 7 of the TSFM gene (R333W). Patient 1 had epilepsy as a prominent phenotype.Created: 3 Nov 2018, 10:48 a.m.
Seizures are part of the phenotype in this mitochondrial disorder.Created: 22 Aug 2018, 7:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 3, MIM#610505
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to TSFM.
Source NHS GMS was added to TSFM.
Zornitza Stark: Seizures are part of the pheno
Gene: tsfm has been classified as Amber List (Moderate Evidence).
Gene: tsfm has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: TSFM was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSFM were set to
Phenotypes for gene: TSFM were changed from to Combined oxidative phosphorylation deficiency 3, 610505; seizures
Tag watchlist tag was added to gene: TSFM.
Expert Review Amber was added to TSFM. Panel: Genetic Epilepsy Syndromes
TSFM was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
TSFM was created by Sarah Leigh