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  3. TRMT5
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Possible mitochondrial disorder - nuclear genes

Gene: TRMT5

Green List (high evidence)
TRMT5 (tRNA methyltransferase 5)
EnsemblGeneIds (GRCh38): ENSG00000126814
EnsemblGeneIds (GRCh37): ENSG00000126814
OMIM: 611023, Gene2Phenotype
TRMT5 is in 5 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 26, 616539

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Additional recent publication.
Created: 1 Sep 2018, 4:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 26, MIM#616539

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 1 Sep 2018, 4:54 a.m.

Panel version: Imported from Mitochondrial disorders panel version 1.67

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Two unrelated cases, and rescue studies in yeast, therefore this should be moved to the red list - more evidence is required for this to be a diagnostic-grade gene.
Created: 15 Feb 2016, 5:41 p.m.
Created: 15 Feb 2016, 5:41 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.320

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single mutation report in literature (two unrelated probands)
Created: 7 Feb 2016, 9:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 7 Feb 2016, 9:41 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
OMIM
611023
Clinvar variants
Variants in TRMT5
Penetrance
None
Panels with this gene

History Filter Activity

25 Oct 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TRMT5 were changed from Combined oxidative phosphorylation deficiency 26, 616539 to Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: TRMT5 was added gene: TRMT5 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMT5 were set to Combined oxidative phosphorylation deficiency 26, 616539