Mitochondrial disorders
Gene: TRMT5EnsemblGeneIds (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.
Zornitza Stark (Australian Genomics)
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
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.
Shamima Rahman (UCL Institute of Child Health)
single mutation report in literature (two unrelated probands)Created: 7 Feb 2016, 9:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- 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
- Complete
- Publications
- Panels with this gene
History Filter Activity
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
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: trmt5 has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: TRMT5 were changed from Multiple Respiratory-Chain Deficiencies to Combined oxidative phosphorylation deficiency 26 616539
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: TRMT5 were set to PMID: 26189817
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to TRMT5. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Created
Shamima Rahman (UCL Institute of Child Health)TRMT5 was created by [email protected]
Added New Source
Shamima Rahman (UCL Institute of Child Health)TRMT5 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list