Mitochondrial disorders
Gene: DARS2EnsemblGeneIds (GRCh38): ENSG00000117593
EnsemblGeneIds (GRCh37): ENSG00000117593
OMIM: 610956, Gene2Phenotype
DARS2 is in 17 panels
3 reviews
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 10 Feb 2016, 12:03 p.m.
Comment on list classification: Both reveiwers agree this gene should be promoted from red to green.Created: 10 Feb 2016, 12:02 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
- OMIM
- 610956
- Clinvar variants
- Variants in DARS2
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset leukodystrophy
- Mitochondrial disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to DARS2. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for DARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for DARS2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)DARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)DARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)DARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen