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Genetic epilepsy syndromes

Gene: TSFM

Amber List (moderate evidence)

TSFM (Ts translation elongation factor, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000123297
EnsemblGeneIds (GRCh37): ENSG00000123297
OMIM: 604723, Gene2Phenotype
TSFM is in 12 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

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

Rebecca Foulger (Genomics England curator)

I don't know

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.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 3, 610505
  • seizures
Tags
watchlist
OMIM
604723
Clinvar variants
Variants in TSFM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to TSFM.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to TSFM.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

3 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tsfm has been classified as Amber List (Moderate Evidence).

3 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tsfm has been classified as Amber List (Moderate Evidence).

3 Nov 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: TSFM was changed from to BIALLELIC, autosomal or pseudoautosomal

3 Nov 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TSFM were set to

3 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TSFM were changed from to Combined oxidative phosphorylation deficiency 3, 610505; seizures

3 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: TSFM.

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to TSFM. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TSFM was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

TSFM was created by Sarah Leigh