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Mitochondrial disease
Gene: TRMT5

TRMT5 (tRNA methyltransferase 5)
EnsemblGeneIds (GRCh38): ENSG00000126814
EnsemblGeneIds (GRCh37): ENSG00000126814
OMIM: 611023, Gene2Phenotype
TRMT5 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported, diverse clinical features consistent with mitochondrial disease.
Created: 9 Apr 2022, 7 a.m. | Last Modified: 9 Apr 2022, 7 a.m.

Panel Version: 0.783

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 26, MIM# 616539

Publications

Created: 9 Apr 2022, 7 a.m.
Last Modified: 9 Apr 2022, 7 a.m.
Panel version: 0.783

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 26, MIM# 616539

OMIM

Clinvar variants

Variants in TRMT5

Penetrance

None

Publications

Panels with this gene

History Filter Activity

9 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trmt5 has been classified as Green List (High Evidence).

9 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRMT5 were changed from to Combined oxidative phosphorylation deficiency 26, MIM# 616539

9 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRMT5 were set to

9 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TRMT5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

9 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TRMT5 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: TRMT5 was added gene: TRMT5 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: TRMT5 was set to Unknown