Hereditary Spastic Paraplegia - paediatric
Gene: DARSEnsemblGeneIds (GRCh38): ENSG00000115866
EnsemblGeneIds (GRCh37): ENSG00000115866
OMIM: 603084, Gene2Phenotype
DARS is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Onset typically in infancy with lower limb spasticity. Brain MRI shows extensive white matter abnormalities involving the supratentorial white matter, brainstem, cerebellar peduncles, and dorsal columns and lateral corticospinal tracts of the spinal cord. However, two individuals with adolescent onset described in 25527264, mimicking steroid-responsive neuroinflammatory disorder. HGNC approved name DARS1.
Sources: Expert listCreated: 3 May 2020, 11:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
- Tags
- OMIM
- 603084
- Clinvar variants
- Variants in DARS
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dars has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dars has been classified as Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag new gene name tag was added to gene: DARS.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DARS was added gene: DARS was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DARS were set to 25527264; 23643384 Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281 Review for gene: DARS was set to GREEN