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Intellectual disability

Gene: TRMT5

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

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 6:15 p.m. | Last Modified: 24 Feb 2025, 6:15 p.m.
Panel Version: 8.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 24 Feb 2025, 6:15 p.m.
Last Modified: 24 Feb 2025, 6:15 p.m.
Panel version: 8.97

Arina Puzriakova (Genomics England Curator)

Comment on list classification: 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, 11:53 a.m.
Panel Version: 7.64
Created: 25 Oct 2024, 11:51 a.m.
Last Modified: 25 Oct 2024, 11:53 a.m.
Copied from panel: Hereditary neuropathy or pain disorder v5.88

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Sources: Expert list
Created: 19 Oct 2024, 11:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
develomental delay; spasticity; peripheral neuropathy

Publications

Created: 19 Oct 2024, 11:32 p.m.

Copied from panel: Hereditary neuropathy or pain disorder v5.88

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
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

25 Feb 2025, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: TRMT5.

24 Feb 2025, Gel status: 3

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)

25 Oct 2024, Gel status: 2

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_24_NHS_review was removed from gene: TRMT5.

25 Oct 2024, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: TRMT5 was added gene: TRMT5 was added to Intellectual disability. Sources: Expert list,Expert Review Amber Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: TRMT5. 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 Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539 Penetrance for gene: TRMT5 were set to Complete