Hereditary neuropathy or pain disorder
Gene: TRMT5EnsemblGeneIds (GRCh38): ENSG00000126814
EnsemblGeneIds (GRCh37): ENSG00000126814
OMIM: 611023, Gene2Phenotype
TRMT5 is in 5 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added to the panel by Alexander Rossor (UCL Institute of Neurology). There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Associated with relevant phenotype in OMIM, but not associated with phenotype in G2P. At least 3 variants reported in at least three cases, together with supportive functional studies.
Phenotype is characterised as a highly variable multisystemic disorder, ranging from hypotonia and GDD in infancy to exercise intolerance and muscle weakness in early adulthood. Peripheral neuropathy is a universal feature in all cases. Various other neurological features such as spasticity, cerebellar signs and seizures, and involvement of other organ systems, including the heart, pancreas, and kidney may also be observed.Created: 25 Oct 2024, 11:51 a.m. | Last Modified: 25 Oct 2024, 11:51 a.m.
Panel Version: 5.86
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
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: TRMT5. Tag Q3_24_NHS_review was removed from gene: TRMT5.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to TRMT5. Source Expert Review Green was added to TRMT5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_24_promote_green tag was added to TRMT5. Tag Q3_24_NHS_review tag was added to TRMT5.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: TRMT5 were set to 35342985: 26189817: 29021354
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: trmt5 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TRMT5 were changed from develomental delay; spasticity; peripheral neuropathy to Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexander Rossor (UCL Institute of Neurology)gene: TRMT5 was added gene: TRMT5 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT5 were set to 35342985: 26189817: 29021354 Phenotypes for gene: TRMT5 were set to develomental delay; spasticity; peripheral neuropathy Penetrance for gene: TRMT5 were set to Complete Review for gene: TRMT5 was set to GREEN