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Intellectual disability syndromic and non-syndromic

Gene: TUFM

Amber List (moderate evidence)

TUFM (Tu translation elongation factor, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000178952
EnsemblGeneIds (GRCh37): ENSG00000178952
OMIM: 602389, Gene2Phenotype
TUFM is in 9 panels

1 review

Chirag Patel (Genetic Health Queensland)

I don't know

Developmental regression seen as part of mitochondrial disorder - 3 families

1 patient with rapidly progressive encephalopathy and homozygous missense mutation in the TUFM gene. No functional studies.

2 families with 2 children each with COXPD4 and biallelic mutations in the TUFM gene. The mutations segregated with the disorder in the families. Complementation with wildtype TUFM restored the complex I and IV assembly and complex IV activity levels in fibroblasts from 1 of the patients.
Created: 5 Dec 2019, 11:26 a.m. | Last Modified: 5 Dec 2019, 11:26 a.m.
Panel Version: 0.515

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 4; OMIM #610678

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
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

14 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

5 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from TUFM. Source Expert list was added to TUFM. Mode of inheritance for gene TUFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUFM were changed from to Combined oxidative phosphorylation deficiency 4; OMIM #610678 Publications for gene TUFM were changed from PubMed: 26741492; 17160893 to PubMed: 26741492; 17160893

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUFM was added gene: TUFM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUFM was set to Unknown