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| Adult onset hereditary spastic paraplegia v6.9 | TRMT5 | Ida Ertmanska Classified gene: TRMT5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v6.9 | TRMT5 | Ida Ertmanska Added comment: Comment on list classification: There are at least 2 unrelated families with affected individuals harbouring biallelic TRMT5 variants, presenting with spastic paraparesis / spastic gait. However, spasticity is not the main presenting feature of this progressive syndrome. Based on available evidence, this gene can only be rated Amber for Adult onset hereditary spastic paraplegia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v6.9 | TRMT5 | Ida Ertmanska Gene: trmt5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v6.8 | TRMT5 |
Ida Ertmanska gene: TRMT5 was added gene: TRMT5 was added to Adult onset hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT5 were set to 26189817; 29021354 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 AMBER Added comment: PMID: 26189817 Powell et al., 2015 Subject 73901- lifelong exercise intolerance, presented at the age of 25 years with prolonged dyspnea associated with lactic acidosis, diagnosed with a mitochondrial myopathy associated with a marked histochemical and biochemical deficiency of COX and a defect in complex III activity. At 35 yrs showed hyperreflexia and extensor plantar reflexes with some clinical spasticity. Compound het for c.312_315del (p.Ile105Serfs∗4) frameshift and a c.872G>A (p.Arg291His). PMID: 29021354 Tarnopolsky et al., 2017 P1 - 46yo female, presented at age 27 years with a lifelong history of exercise intolerance, muscle weakness, and shortness of breath on exertion. EMG normal at 27yo, progressive axonal sensory neuropathy seen at 43 years. 46yo - progression of proximal weakness with a waddling and spastic gait. P2 (sister of P1) - presented at age 33 yrs with worsening gait and an increased frequency of falls; diagnosed with cerebral palsy in childhood; lower extremities: mild proximal and severe distal weakness/atrophy, severe spasticity, and upgoing toes; she showed gross motor, cognitive, and speech delays. Both sisters compound het for TRMT5: c.872G>A (p.Arg291His) and c.312_315del (p.Ile105Serfs4X), confirmed in trans. TRMT5 is associated with Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539 in OMIM (accessed 18 Mar 2026). Sources: Literature |
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