1. Panels
  2. Early onset or syndromic epilepsy
  3. TEFM
Genes in panel
Prev Next

Early onset or syndromic epilepsy

Gene: TEFM

Amber List (moderate evidence)
TEFM (transcription elongation factor, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000172171
EnsemblGeneIds (GRCh37): ENSG00000172171
OMIM: 616422, Gene2Phenotype
TEFM is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

PMID:36823193 reported seven individuals from five unrelated families presenting with mitochondrial respiratory chain deficiency and they were identified with biallelic TEFM variants. Three of these patients from two unrelated families had seizures.
Created: 11 Dec 2023, 3:32 p.m. | Last Modified: 11 Dec 2023, 3:35 p.m.
Panel Version: 4.134

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 58, OMIM:620451

Publications

Created: 11 Dec 2023, 3:32 p.m.
Last Modified: 11 Dec 2023, 3:35 p.m.
Panel version: 4.134

Hannah Knight (NIHR BioResource - University of Cambridge)

Green List (high evidence)

PMID: 36823193 (2023) report seven TEFM variants (four missense, two frameshift and one in-frame 2-amino acid deletion) in seven individuals from five unrelated families who present with mitochondrial respiratory chain deficiency and a wide range of infantile or childhood-onset neurological and neuromuscular symptoms, due to abnormal mitochondrial transcription. Zebrafish model as well
Sources: Literature
Created: 4 Dec 2023, 1:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 58

Publications

Created: 4 Dec 2023, 1:32 p.m.

Copied from panel: Mitochondrial disorders v4.116

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 58, OMIM:620451
OMIM
616422
Clinvar variants
Variants in TEFM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

11 Dec 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TEFM was added gene: TEFM was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: TEFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TEFM were set to 36823193 Phenotypes for gene: TEFM were set to Combined oxidative phosphorylation deficiency 58, OMIM:620451