Ataxia and cerebellar anomalies - narrow panel
Gene: TRMT5
TRMT5 (tRNA methyltransferase 5)
EnsemblGeneIds (GRCh38): ENSG00000126814
EnsemblGeneIds (GRCh37): ENSG00000126814
OMIM: 611023, Gene2Phenotype
TRMT5 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000126814
EnsemblGeneIds (GRCh37): ENSG00000126814
OMIM: 611023, Gene2Phenotype
TRMT5 is in 7 panels
1 review
Ida Ertmanska (Genomics England Curator)
PMID: 35342985 Argente-Escrig et al., 2022
3 cases from apparently unrelated Southern European families with infantile onset demyelinating neuropathy. All compound het for the same TRMT5 variants: [c.312_315del; p.Ile105Serfs*4] and [c.665 T > C; p.Ile222Thr].
The cerebellar ataxia was described as mild (gait disturbance). Neuropathy is the main presentation.
Sources: LiteratureCreated: 18 Mar 2026, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- 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
18 Mar 2026, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ida Ertmanska (Genomics England Curator)gene: TRMT5 was added gene: TRMT5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT5 were set to 35342985 Phenotypes for gene: TRMT5 were set to Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539 Review for gene: TRMT5 was set to RED