White matter disorders and cerebral calcification - narrow panel
Gene: DARSEnsemblGeneIds (GRCh38): ENSG00000115866
EnsemblGeneIds (GRCh37): ENSG00000115866
OMIM: 603084, Gene2Phenotype
DARS is in 15 panels
1 review
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for DARS is DARS1Created: 6 Sep 2019, 11:39 a.m. | Last Modified: 6 Sep 2019, 11:39 a.m.
Panel Version: 1.9
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hypomyelination with brainstem and spinal cord involvement and leg spasticity
- Tags
- OMIM
- 603084
- Clinvar variants
- Variants in DARS
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Fetal anomalies
- Adult onset leukodystrophy
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Hereditary spastic paraplegia
- DDG2P
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: DARS.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: DARS was added gene: DARS was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity