DARS1

aspartyl-tRNA synthetase 1
OMIM: 603084, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green DARS1 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
Tags
  • new gene name

Green DARS1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
Tags
  • new gene name

Green DARS1 in Leukodystrophy


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
Tags
  • new gene name

Green DARS1 in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
Tags
  • new gene name

Green DARS1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3)
Tags
  • new gene name

Green DARS1 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
Tags
  • new gene name

Green DARS1 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3)