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  3. MRPS34
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Hereditary neuropathy or pain disorder

Gene: MRPS34

No list
MRPS34 (mitochondrial ribosomal protein S34)
EnsemblGeneIds (GRCh38): ENSG00000074071
EnsemblGeneIds (GRCh37): ENSG00000074071
OMIM: 611994, Gene2Phenotype
MRPS34 is in 8 panels

1 review

Alexander Rossor (UCL Institute of Neurology)

I don't know

One case associated with neuropathy. A likely cause of neuropathy as multiple other cerebral folate gene variants also causing neuropathy as part of extended phenotype. Certainly not green at this stage but no good evidence it isn't pathogenic so should not be downgraded to red
Sources: Other
Created: 6 Sep 2026, 8:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar ataxia, distal motor neuropathy; pyramidal syndrome; leukoencephalopathy on brain MRI; Treatment with oral folinic acid

Publications

Created: 6 Sep 2026, 8:15 a.m.

Panel version: 8.33

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Cerebellar ataxia, distal motor neuropathy
  • pyramidal syndrome
  • leukoencephalopathy on brain MRI
  • Treatment with oral folinic acid
OMIM
611994
Clinvar variants
Variants in MRPS34
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 2026, Gel status: 0

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

Alexander Rossor (UCL Institute of Neurology)

gene: MRPS34 was added gene: MRPS34 was added to Hereditary neuropathy or pain disorder. Sources: Other Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS34 were set to 41506652 Phenotypes for gene: MRPS34 were set to Cerebellar ataxia, distal motor neuropathy; pyramidal syndrome; leukoencephalopathy on brain MRI; Treatment with oral folinic acid Review for gene: MRPS34 was set to AMBER