Hereditary Neuropathy - complex

Gene: DARS2

Green List (high evidence)

DARS2 (aspartyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000117593
EnsemblGeneIds (GRCh37): ENSG00000117593
OMIM: 610956, Gene2Phenotype
DARS2 is in 12 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

PMID: 20506600 - Not a common feature of this phenotype but has been reported in some individuals with LBSL.

PMID: 33574740
28.4% of the cases diagnosed with Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) have neuropathy like symptoms as well.
Created: 2 Jun 2023, 1:51 a.m. | Last Modified: 2 Jun 2023, 1:51 a.m.
Panel Version: 0.166

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) (MIM#611105)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings
OMIM
610956
Clinvar variants
Variants in DARS2
Penetrance
None
Panels with this gene

History Filter Activity

14 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dars2 has been classified as Green List (High Evidence).

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DARS2 was added gene: DARS2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DARS2 were set to Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings