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Intellectual disability

Gene: TEFM

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

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 3 May 2024, 11:55 a.m. | Last Modified: 3 May 2024, 11:55 a.m.
Panel Version: 6.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 3 May 2024, 11:55 a.m.
Last Modified: 3 May 2024, 11:55 a.m.
Panel version: 6.11

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Created: 11 Dec 2023, 3:39 p.m. | Last Modified: 11 Dec 2023, 3:39 p.m.
Panel Version: 5.347
PMID:36823193 reported seven individuals from five unrelated families presenting with mitochondrial respiratory chain deficiency and they were identified with biallelic TEFM variants. Five of these patients from four unrelated families had intellectual disability.
Created: 11 Dec 2023, 3:38 p.m. | Last Modified: 11 Dec 2023, 3:38 p.m.
Panel Version: 5.346

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 58, OMIM:620451

Publications

Created: 11 Dec 2023, 3:38 p.m.
Last Modified: 11 Dec 2023, 3:38 p.m.
Panel version: 5.346

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
  • NHS GMS
  • Expert Review Green
  • 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

3 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: TEFM.

3 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to TEFM. Source NHS GMS was added to TEFM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green tag was added to gene: TEFM.

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 Intellectual disability - microarray and sequencing. 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