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Mitochondrial disease

Gene: TUFM

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

COXPD4; 5 unrelated families reported with biallelic variants. Features are lactic acidosis, progressive encephalopathy, dysplastic leukoencephalopathy due to abberant mitochondrial DNA translation. Patient reported in PMID: 30903008 exhibited dilated cardiomyopathy without progressive encephalopathy.
Created: 28 Mar 2022, 3:06 a.m. | Last Modified: 28 Mar 2022, 3:06 a.m.
Panel Version: 0.747

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 4, OMIM #610678; MONDO:0012534

Publications

Created: 28 Mar 2022, 3:06 a.m.
Last Modified: 28 Mar 2022, 3:06 a.m.
Panel version: 0.747

Manny Jacobs (Victorian Clinical Genetics Services)

Green List (high evidence)

COXPD4; 5 unrelated families reported with biallelic variants.
Features are lactic acidosis, progressive encephalopathy, dysplastic leukoencephalopathy due to abberant mitochondrial DNA translation.
Patient reported in PMID: 30903008 exhibited dilated cardiomyopathy without progressive encephalopathy.
Created: 27 Mar 2022, 11:30 p.m. | Last Modified: 27 Mar 2022, 11:30 p.m.
Panel Version: 0.12049

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 4, OMIM #610678; MONDO:0012534

Publications

Created: 27 Mar 2022, 11:30 p.m.
Last Modified: 27 Mar 2022, 11:30 p.m.
Panel version: Imported from Mendeliome panel version 0.12049

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 4, OMIM #610678
  • MONDO:0012534
OMIM
602389
Clinvar variants
Variants in TUFM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tufm has been classified as Green List (High Evidence).

28 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUFM were changed from to Combined oxidative phosphorylation deficiency 4, OMIM #610678; MONDO:0012534

28 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUFM were set to

28 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 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 Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: TUFM was set to Unknown