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Fetal anomalies

Gene: TUFM

Amber List (moderate evidence)
TUFM (Tu translation elongation factor, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000178952
EnsemblGeneIds (GRCh37): ENSG00000178952
OMIM: 602389, Gene2Phenotype
TUFM is in 10 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

I don't know

Green on mitochondrial and other panels, and on Australian fetal anomalies panel. Rare autosomal recessive mitochondrial condition with onset in infancy, later-onset presentations also reported (37433570). IUGR and developmental brain abnormalities reported in individual cases (17160893, 26741492).
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 4, MIM#610678

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Combined oxidative phosphorylation deficiency 4, OMIM:610678
OMIM
602389
Clinvar variants
Variants in TUFM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: TUFM were changed from Combined oxidative phosphorylation deficiency 4, OMIM:610678; COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 to Combined oxidative phosphorylation deficiency 4, OMIM:610678

20 Feb 2025, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to TUFM. Added phenotypes Combined oxidative phosphorylation deficiency 4, OMIM:610678 for gene: TUFM Publications for gene: TUFM were updated from to 26741492; 17160893

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: TUFM was added gene: TUFM was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUFM were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4