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| Leukodystrophy v1.0 | DARS1 | Gene symbol changed from DARS to DARS1 during gene set migration (ENSG00000115866 -> ENSG00000115866) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.85 | DARS |
Zornitza Stark gene: DARS was added gene: DARS was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DARS were set to 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 Added comment: 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. HGNC approved name DARS1. Sources: Expert list |
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