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  2. Likely inborn error of metabolism
  3. TRMT5
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Likely inborn error of metabolism

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

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in at least three cases, together with supportive functional studies.
Created: 25 Apr 2019, 3:56 p.m.
Created: 25 Apr 2019, 3:56 p.m.

Panel version: Imported from Mitochondrial disorders panel version 1.221

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
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
OMIM
611023
Clinvar variants
Variants in TRMT5
Penetrance
None
Publications
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; Multiple Respiratory-Chain Deficiencies to Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539

6 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to TRMT5. Added phenotypes Combined oxidative phosphorylation deficiency 26 616539 for gene: TRMT5 Publications for gene TRMT5 were changed from PMID: 26189817 to 29021354; 26189817 Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: TRMT5 was added gene: TRMT5 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT5 were set to PMID: 26189817 Phenotypes for gene: TRMT5 were set to Multiple Respiratory-Chain Deficiencies